Linked Data
ClinVar Variation Id:
2784476
ClinVar RCV Id:
RCV003662254
gnomAD v4:
12-131941350-T-C
MyVariant Identifiers:
chr12:g.132425895T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941350T>C , CM000674.2:g.131941350T>C | GRCh38 |
| NC_000012.11:g.132425895T>C , CM000674.1:g.132425895T>C | GRCh37 |
| NC_000012.10:g.130991848T>C | NCBI36 |
| NG_013039.1:g.17151T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.603T>C MANE Select | ENSP00000365837.3:p.Tyr201= | |
| ENST00000322060.9:c.519T>C | ENSP00000324726.5:p.Tyr173= | |
| ENST00000376649.7:c.603T>C | ENSP00000365837.3:p.Tyr201= | |
| ENST00000443358.6:c.519T>C | ENSP00000392451.2:p.Tyr173= | |
| ENST00000535067.5:c.358-2189T>C | ENSP00000443969.1:n.358-2189T>C | |
| ENST00000537484.1:c.528T>C | ENSP00000440179.1:p.Tyr176= | |
| ENST00000542167.2:c.444T>C | ENSP00000438948.1:p.Tyr148= | |
| ENST00000543754.1:n.424T>C | ||
| NM_001002019.2:c.519T>C | NP_001002019.1:p.Tyr173= | |
| NM_001002020.2:c.519T>C | NP_001002020.1:p.Tyr173= | |
| NM_025215.5:c.603T>C | NP_079491.2:p.Tyr201= | |
| XM_011538768.1:c.204T>C | XP_011537070.1:p.Tyr68= | |
| XM_011538768.3:c.204T>C | XP_011537070.1:p.Tyr68= | |
| XR_001748872.1:n.1058T>C | ||
| NM_001002019.3:c.519T>C | NP_001002019.1:p.Tyr173= | |
| NM_001002020.3:c.519T>C | NP_001002020.1:p.Tyr173= | |
| NM_025215.6:c.603T>C MANE Select | NP_079491.2:p.Tyr201= |