Linked Data
ClinVar Variation Id:
3342
ClinVar RCV Id:
RCV000003506
dbSNP Id:
rs121434248
ExAC:
2:31754396 G / A
gnomAD v2:
2-31754396-G-A
gnomAD v3:
2-31529326-G-A
gnomAD v4:
2-31529326-G-A
COSMIC:
COSN8942745
PubMed:
PMID:9066886
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31529326G>A , CM000664.2:g.31529326G>A | GRCh38 |
| NC_000002.11:g.31754396G>A , CM000664.1:g.31754396G>A | GRCh37 |
| NC_000002.10:g.31607900G>A | NCBI36 |
| NG_008365.1:g.56646C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.679C>T MANE Select | ENSP00000477587.1:p.Arg227Ter | |
| ENST00000622030.1:c.679C>T | ENSP00000477587.1:p.Arg227Ter | |
| NM_000348.3:c.679C>T | NP_000339.2:p.Arg227Ter | |
| XM_011533069.1:c.457C>T | XP_011531371.1:p.Arg153Ter | |
| XM_011533070.1:c.424C>T | XP_011531372.1:p.Arg142Ter | |
| XM_011533071.1:c.424C>T | XP_011531373.1:p.Arg142Ter | |
| XM_011533072.1:c.424C>T | XP_011531374.1:p.Arg142Ter | |
| XM_011533069.2:c.457C>T | XP_011531371.1:p.Arg153Ter | |
| XM_011533072.2:c.424C>T | XP_011531374.1:p.Arg142Ter | |
| NM_000348.4:c.679C>T MANE Select | NP_000339.2:p.Arg227Ter |