Linked Data
dbSNP Id:
rs745476123
ExAC:
19:33878286 A / G
gnomAD v2:
19-33878286-A-G
gnomAD v4:
19-33387380-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33387380A>G , CM000681.2:g.33387380A>G | GRCh38 |
| NC_000019.9:g.33878286A>G , CM000681.1:g.33878286A>G | GRCh37 |
| NC_000019.8:g.38570126A>G | NCBI36 |
| NG_013358.1:g.139514T>C | |
| NG_013358.2:g.139514T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.1512T>C | ENSP00000468516.4:p.Cys504= | |
| ENST00000651901.2:c.1536T>C | ENSP00000498922.2:p.Cys512= | |
| ENST00000698359.1:c.1401T>C | ENSP00000513682.1:p.Cys467= | |
| ENST00000698360.1:c.1497T>C | ENSP00000513683.1:p.Cys499= | |
| ENST00000698361.1:c.*74T>C | ENSP00000513684.1:n.*74T>C | |
| ENST00000698362.1:c.*583T>C | ENSP00000513685.1:n.*583T>C | |
| ENST00000698426.1:c.1125T>C | ENSP00000513713.1:p.Cys375= | |
| ENST00000698427.1:c.1488T>C | ENSP00000513714.1:p.Cys496= | |
| ENST00000698428.1:c.1125T>C | ENSP00000513715.1:p.Cys375= | |
| ENST00000698429.1:n.1329T>C | ||
| ENST00000698430.1:c.1696T>C | ||
| ENST00000698431.1:c.1183T>C | ENSP00000513717.1:n.1183T>C | |
| ENST00000698432.1:c.1255T>C | ||
| ENST00000698433.1:n.908T>C | ||
| ENST00000244137.12:c.1446T>C MANE Select | ENSP00000244137.5:p.Cys482= | |
| ENST00000588328.6:c.1501T>C | ||
| ENST00000651901.1:c.1532T>C | ||
| ENST00000244137.11:c.1446T>C | ENSP00000244137.5:p.Cys482= | |
| ENST00000397032.8:c.1323T>C | ENSP00000380226.3:p.Cys441= | |
| ENST00000436370.7:c.1254T>C | ENSP00000391890.2:p.Cys418= | |
| ENST00000589598.5:n.171T>C | ||
| ENST00000591968.1:n.518T>C | ||
| ENST00000593085.1:n.1333T>C | ||
| NM_000285.3:c.1446T>C | NP_000276.2:p.Cys482= | |
| NM_001166056.1:c.1323T>C | NP_001159528.1:p.Cys441= | |
| NM_001166057.1:c.1254T>C | NP_001159529.1:p.Cys418= | |
| NM_000285.4:c.1446T>C MANE Select | NP_000276.2:p.Cys482= | |
| NM_001166056.2:c.1323T>C | NP_001159528.1:p.Cys441= | |
| NM_001166057.2:c.1254T>C | NP_001159529.1:p.Cys418= |