Linked Data
ClinVar Variation Id:
225464
dbSNP Id:
rs763084100
ExAC:
3:38770224 G / A
gnomAD v2:
3-38770224-G-A
gnomAD v3:
3-38728733-G-A
gnomAD v4:
3-38728733-G-A
COSMIC:
COSM79043
PubMed:
PMID:23115331
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38728733G>A , CM000665.2:g.38728733G>A | GRCh38 |
| NC_000003.11:g.38770224G>A , CM000665.1:g.38770224G>A | GRCh37 |
| NC_000003.10:g.38745228G>A | NCBI36 |
| NG_031891.2:g.70278C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.2449C>T MANE Select | ENSP00000390600.2:p.Arg817Ter | |
| ENST00000643924.1:c.2449C>T | ENSP00000495595.1:p.Arg817Ter | |
| ENST00000655275.1:c.2476C>T | ENSP00000499510.1:p.Arg826Ter | |
| ENST00000449082.2:c.2449C>T | ENSP00000390600.2:p.Arg817Ter | |
| NM_001293306.2:c.2449C>T | NP_001280235.2:p.Arg817Ter | |
| NM_001293307.2:c.2155C>T | NP_001280236.2:p.Arg719Ter | |
| NM_006514.3:c.2449C>T | NP_006505.3:p.Arg817Ter | |
| XM_005265371.2:c.2458C>T | XP_005265428.1:p.Arg820Ter | |
| XM_011533993.1:c.2458C>T | XP_011532295.1:p.Arg820Ter | |
| XM_011533994.1:c.2164C>T | XP_011532296.1:p.Arg722Ter | |
| XM_005265371.3:c.2458C>T | XP_005265428.1:p.Arg820Ter | |
| XM_011533993.2:c.2458C>T | XP_011532295.1:p.Arg820Ter | |
| XM_011533994.2:c.2164C>T | XP_011532296.1:p.Arg722Ter | |
| NM_006514.4:c.2449C>T MANE Select | NP_006505.4:p.Arg817Ter |