Linked Data
ClinVar Variation Id:
2203762
ClinVar RCV Id:
RCV002640757
dbSNP Id:
rs2138157735
COSMIC:
COSM6136964
MyVariant Identifiers:
chr12:g.46243558A>T (hg19)
MutSpliceDB:
CA479401163
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45849775A>T , CM000674.2:g.45849775A>T | GRCh38 |
| NC_000012.11:g.46243558A>T , CM000674.1:g.46243558A>T | GRCh37 |
| NC_000012.10:g.44529825A>T | NCBI36 |
| NG_052800.1:g.125111A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422737.7:c.1911A>T | ENSP00000415650.3:p.Ala637= | |
| ENST00000334344.11:c.1911A>T MANE Select | ENSP00000335044.6:p.Ala637= | |
| ENST00000422737.6:c.1832A>T | ||
| ENST00000334344.10:c.1911A>T | ENSP00000335044.6:p.Ala637= | |
| ENST00000422737.5:c.1464A>T | ENSP00000415650.1:p.Ala488= | |
| ENST00000444670.5:c.741A>T | ENSP00000397307.1:p.Ala247= | |
| ENST00000479608.5:n.1202A>T | ||
| NM_152641.2:c.1911A>T | NP_689854.2:p.Ala637= | |
| XM_006719272.2:c.1911A>T | XP_006719335.1:p.Ala637= | |
| XM_011538025.1:c.279A>T | XP_011536327.1:p.Ala93= | |
| XR_944505.1:n.2059A>T | ||
| NM_001347839.1:c.1911A>T | NP_001334768.1:p.Ala637= | |
| NM_152641.3:c.1911A>T | NP_689854.2:p.Ala637= | |
| XM_006719272.4:c.1911A>T | XP_006719335.1:p.Ala637= | |
| XR_944505.3:n.2042A>T | ||
| NM_152641.4:c.1911A>T MANE Select | NP_689854.2:p.Ala637= | |
| NM_001347839.2:c.1911A>T | NP_001334768.1:p.Ala637= |