Linked Data
ClinVar Variation Id:
39772
ClinVar RCV Id:
RCV000032991
dbSNP Id:
rs397515423
gnomAD v2:
1-64120045-C-T
gnomAD v3:
1-63654374-C-T
gnomAD v4:
1-63654374-C-T
PubMed:
PMID:22492991
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63654374C>T , CM000663.2:g.63654374C>T | GRCh38 |
| NC_000001.10:g.64120045C>T , CM000663.1:g.64120045C>T | GRCh37 |
| NC_000001.9:g.63892633C>T | NCBI36 |
| NG_016966.1:g.66099C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.1507C>T MANE Select | ENSP00000360125.3:p.Arg503Ter | |
| ENST00000650546.1:c.1507C>T | ENSP00000497812.1:p.Arg503Ter | |
| ENST00000371083.4:c.1561C>T | ENSP00000360124.4:p.Arg521Ter | |
| ENST00000371084.7:c.1507C>T | ENSP00000360125.3:p.Arg503Ter | |
| ENST00000483707.1:n.541C>T | ||
| ENST00000540265.5:c.916C>T | ENSP00000443449.1:p.Arg306Ter | |
| NM_001172818.1:c.1561C>T | NP_001166289.1:p.Arg521Ter | |
| NM_001172819.1:c.916C>T | NP_001166290.1:p.Arg306Ter | |
| NM_002633.2:c.1507C>T | NP_002624.2:p.Arg503Ter | |
| NM_002633.3:c.1507C>T MANE Select | NP_002624.2:p.Arg503Ter | |
| NM_001172819.2:c.916C>T | NP_001166290.1:p.Arg306Ter |