Linked Data
ClinVar Variation Id:
427128
dbSNP Id:
rs1085307973
gnomAD v2:
1-40780024-C-T
gnomAD v4:
1-40314352-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40314352C>T , CM000663.2:g.40314352C>T | GRCh38 |
| NC_000001.10:g.40780024C>T , CM000663.1:g.40780024C>T | GRCh37 |
| NC_000001.9:g.40552611C>T | NCBI36 |
| NG_008031.1:g.7916G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372748.8:c.186G>A MANE Select | ENSP00000361834.3:p.Pro62= | |
| ENST00000417105.6:c.-97G>A | ENSP00000388493.2:n.-97G>A | |
| ENST00000461118.6:n.752G>A | ||
| ENST00000488463.6:n.237G>A | ||
| ENST00000642679.1:c.-97G>A | ENSP00000495407.1:n.-97G>A | |
| ENST00000372736.3:c.150+1238G>A | ENSP00000361821.3:n.150+1238G>A | |
| ENST00000372748.7:c.186G>A | ENSP00000361834.3:p.Pro62= | |
| ENST00000417105.5:c.151G>A | ||
| ENST00000461118.5:n.755G>A | ||
| ENST00000482722.5:n.146G>A | ||
| ENST00000488463.5:n.237G>A | ||
| ENST00000496215.5:n.335G>A | ||
| NM_001852.3:c.186G>A | NP_001843.1:p.Pro62= | |
| XM_006710365.2:c.186G>A | XP_006710428.1:p.Pro62= | |
| XM_011540714.1:c.186G>A | XP_011539016.1:p.Pro62= | |
| XM_011540715.1:c.-97G>A | XP_011539017.1:n.-97G>A | |
| XM_011540716.1:c.-97G>A | XP_011539018.1:n.-97G>A | |
| XM_011540717.1:c.-701G>A | XP_011539019.1:n.-701G>A | |
| XM_011540718.1:c.186G>A | XP_011539020.1:p.Pro62= | |
| XM_006710365.3:c.186G>A | XP_006710428.1:p.Pro62= | |
| XM_011540715.2:c.-97G>A | XP_011539017.1:n.-97G>A | |
| XM_011540716.2:c.-97G>A | XP_011539018.1:n.-97G>A | |
| XM_011540717.2:c.-701G>A | XP_011539019.1:n.-701G>A | |
| XM_017000332.1:c.186G>A | XP_016855821.1:p.Pro62= | |
| XM_017000333.1:c.-97G>A | XP_016855822.1:n.-97G>A | |
| NM_001852.4:c.186G>A MANE Select | NP_001843.1:p.Pro62= |