Linked Data
ClinVar Variation Id:
1547008
ClinVar RCV Id:
RCV002177249
dbSNP Id:
rs779651314
gnomAD v4:
12-131941464-C-T
MyVariant Identifiers:
chr12:g.132426009C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941464C>T , CM000674.2:g.131941464C>T | GRCh38 |
| NC_000012.11:g.132426009C>T , CM000674.1:g.132426009C>T | GRCh37 |
| NC_000012.10:g.130991962C>T | NCBI36 |
| NG_013039.1:g.17265C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.717C>T MANE Select | ENSP00000365837.3:p.Tyr239= | |
| ENST00000322060.9:c.633C>T | ENSP00000324726.5:p.Tyr211= | |
| ENST00000376649.7:c.717C>T | ENSP00000365837.3:p.Tyr239= | |
| ENST00000443358.6:c.633C>T | ENSP00000392451.2:p.Tyr211= | |
| ENST00000535067.5:c.358-2075C>T | ENSP00000443969.1:n.358-2075C>T | |
| ENST00000542167.2:c.558C>T | ENSP00000438948.1:p.Tyr186= | |
| ENST00000543754.1:n.538C>T | ||
| NM_001002019.2:c.633C>T | NP_001002019.1:p.Tyr211= | |
| NM_001002020.2:c.633C>T | NP_001002020.1:p.Tyr211= | |
| NM_025215.5:c.717C>T | NP_079491.2:p.Tyr239= | |
| XM_011538768.1:c.318C>T | XP_011537070.1:p.Tyr106= | |
| XM_011538768.3:c.318C>T | XP_011537070.1:p.Tyr106= | |
| XR_001748872.1:n.1172C>T | ||
| NM_001002019.3:c.633C>T | NP_001002019.1:p.Tyr211= | |
| NM_001002020.3:c.633C>T | NP_001002020.1:p.Tyr211= | |
| NM_025215.6:c.717C>T MANE Select | NP_079491.2:p.Tyr239= |