Linked Data
ClinVar Variation Id:
1553979
ClinVar RCV Id:
RCV002199517
dbSNP Id:
rs745475042
ExAC:
12:132426003 C / T
gnomAD v2:
12-132426003-C-T
gnomAD v4:
12-131941458-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941458C>T , CM000674.2:g.131941458C>T | GRCh38 |
| NC_000012.11:g.132426003C>T , CM000674.1:g.132426003C>T | GRCh37 |
| NC_000012.10:g.130991956C>T | NCBI36 |
| NG_013039.1:g.17259C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.711C>T MANE Select | ENSP00000365837.3:p.Ala237= | |
| ENST00000322060.9:c.627C>T | ENSP00000324726.5:p.Ala209= | |
| ENST00000376649.7:c.711C>T | ENSP00000365837.3:p.Ala237= | |
| ENST00000443358.6:c.627C>T | ENSP00000392451.2:p.Ala209= | |
| ENST00000535067.5:c.358-2081C>T | ENSP00000443969.1:n.358-2081C>T | |
| ENST00000542167.2:c.552C>T | ENSP00000438948.1:p.Ala184= | |
| ENST00000543754.1:n.532C>T | ||
| NM_001002019.2:c.627C>T | NP_001002019.1:p.Ala209= | |
| NM_001002020.2:c.627C>T | NP_001002020.1:p.Ala209= | |
| NM_025215.5:c.711C>T | NP_079491.2:p.Ala237= | |
| XM_011538768.1:c.312C>T | XP_011537070.1:p.Ala104= | |
| XM_011538768.3:c.312C>T | XP_011537070.1:p.Ala104= | |
| XR_001748872.1:n.1166C>T | ||
| NM_001002019.3:c.627C>T | NP_001002019.1:p.Ala209= | |
| NM_001002020.3:c.627C>T | NP_001002020.1:p.Ala209= | |
| NM_025215.6:c.711C>T MANE Select | NP_079491.2:p.Ala237= |