chr15:66436816:G>C Detail (hg38) (MAP2K1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr15:66,729,154-66,729,154 View the variant detail on this assembly version. |
hg38 | chr15:66,436,816-66,436,816 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_002755.3:c.362G>C | NP_002746.1:p.Cys121Ser |
Ensemble | ENST00000307102.10:c.362G>C | ENST00000307102.10:p.Cys121Ser |
ENST00000685172.1:c.362G>C | ENST00000685172.1:p.Cys121Ser |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
A patient with BRAF-mutant melanoma relapsed after treatment with PLX4032 (vemurafenib). The MAP2K1 ... | CIViC Evidence | Detail |
NM_002755.4(MAP2K1):c.362G>C (p.Cys121Ser) AND Lung adenocarcinoma | ClinVar | Detail |
NM_002755.4(MAP2K1):c.362G>C (p.Cys121Ser) AND Melanoma | ClinVar | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs1057519731 dbSNP
- Genome
- hg38
- Position
- chr15:66,436,816-66,436,816
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- C121S
- Transcript 1 (CIViC Variant)
- ENST00000307102.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/627
Genome browser