Linked Data
ClinVar Variation Id:
161475
ClinVar RCV Id:
RCV000149009
dbSNP Id:
rs193920975
gnomAD v2:
2-160994145-C-T
gnomAD v4:
2-160137634-C-T
COSMIC:
COSM1178753
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.160137634C>T , CM000664.2:g.160137634C>T | GRCh38 |
| NC_000002.11:g.160994145C>T , CM000664.1:g.160994145C>T | GRCh37 |
| NC_000002.10:g.160702391C>T | NCBI36 |
| NG_042041.1:g.67680G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283249.7:c.1460G>A MANE Select | ENSP00000283249.2:p.Gly487Glu | |
| ENST00000283249.6:c.1460G>A | ENSP00000283249.2:p.Gly487Glu | |
| ENST00000409583.5:c.*1074G>A | ENSP00000386477.1:n.*1074G>A | |
| ENST00000409872.1:c.1460G>A | ENSP00000386367.1:p.Gly487Glu | |
| ENST00000409967.6:c.1460G>A | ENSP00000386828.2:p.Gly487Glu | |
| ENST00000428609.6:c.1334G>A | ENSP00000408024.2:p.Gly445Glu | |
| ENST00000620391.4:c.1175G>A | ENSP00000481183.1:p.Gly392Glu | |
| NM_000888.4:c.1460G>A | NP_000879.2:p.Gly487Glu | |
| NM_001282353.1:c.1460G>A | NP_001269282.1:p.Gly487Glu | |
| NM_001282354.1:c.1175G>A | NP_001269283.1:p.Gly392Glu | |
| NM_001282355.1:c.1460G>A | NP_001269284.1:p.Gly487Glu | |
| NM_001282388.1:c.1334G>A | NP_001269317.1:p.Gly445Glu | |
| NM_001282389.1:c.1241G>A | NP_001269318.1:p.Gly414Glu | |
| NM_001282390.1:c.1046G>A | NP_001269319.1:p.Gly349Glu | |
| XR_923525.1:n.1039-4029C>T | ||
| NM_000888.5:c.1460G>A MANE Select | NP_000879.2:p.Gly487Glu | |
| NM_001282353.2:c.1460G>A | NP_001269282.1:p.Gly487Glu | |
| NM_001282355.2:c.1460G>A | NP_001269284.1:p.Gly487Glu | |
| NM_001282388.2:c.1334G>A | NP_001269317.1:p.Gly445Glu | |
| NM_001282389.2:c.1241G>A | NP_001269318.1:p.Gly414Glu | |
| NM_001282390.2:c.1046G>A | NP_001269319.1:p.Gly349Glu | |
| NM_001282354.2:c.1175G>A | NP_001269283.1:p.Gly392Glu |