gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695187G>A , CM000684.2:g.28695187G>A | GRCh38 |
| NC_000022.10:g.29091175G>A , CM000684.1:g.29091175G>A | GRCh37 |
| NC_000022.9:g.27421175G>A | NCBI36 |
| NG_008150.1:g.51648C>T | |
| NG_008150.2:g.51680C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*50C>T | ENSP00000518557.1:n.*50C>T | |
| ENST00000402731.6:c.1114C>T | ENSP00000384835.2:p.Gln372Ter | |
| ENST00000404276.6:c.1315C>T MANE Select | ENSP00000385747.1:p.Gln439Ter | |
| ENST00000425190.7:c.652C>T | ENSP00000390244.2:p.Gln218Ter | |
| ENST00000464581.6:c.655C>T | ENSP00000483777.2:p.Gln219Ter | |
| ENST00000648295.1:n.867C>T | ||
| ENST00000649563.1:c.652C>T | ENSP00000496928.1:p.Gln218Ter | |
| ENST00000650281.1:c.1315C>T | ENSP00000497000.1:p.Gln439Ter | |
| ENST00000328354.10:c.1315C>T | ENSP00000329178.6:p.Gln439Ter | |
| ENST00000348295.7:c.1228C>T | ENSP00000329012.5:p.Gln410Ter | |
| ENST00000382580.6:c.1444C>T | ENSP00000372023.2:p.Gln482Ter | |
| ENST00000402731.5:c.1228C>T | ENSP00000384835.1:p.Gln410Ter | |
| ENST00000403642.5:c.1042C>T | ENSP00000384919.1:p.Gln348Ter | |
| ENST00000404276.5:c.1315C>T | ENSP00000385747.1:p.Gln439Ter | |
| ENST00000405598.5:c.1315C>T | ENSP00000386087.1:p.Gln439Ter | |
| ENST00000416671.5:c.*805C>T | ENSP00000402225.1:n.*805C>T | |
| ENST00000417588.5:c.1224C>T | ENSP00000412901.1:n.1224C>T | |
| ENST00000433728.5:c.1253C>T | ENSP00000404400.1:n.1253C>T | |
| ENST00000434810.5:c.513C>T | ||
| ENST00000448511.5:c.1205C>T | ENSP00000404567.1:n.1205C>T | |
| ENST00000456369.5:c.263+4651C>T | ||
| NM_001005735.1:c.1444C>T | NP_001005735.1:p.Gln482Ter | |
| NM_001257387.1:c.652C>T | NP_001244316.1:p.Gln218Ter | |
| NM_007194.3:c.1315C>T | NP_009125.1:p.Gln439Ter | |
| NM_145862.2:c.1228C>T | NP_665861.1:p.Gln410Ter | |
| XM_006724114.2:c.835C>T | XP_006724177.1:p.Gln279Ter | |
| XM_006724116.2:c.772C>T | XP_006724179.2:p.Gln258Ter | |
| XM_011529839.1:c.1474C>T | XP_011528141.1:p.Gln492Ter | |
| XM_011529840.1:c.1387C>T | XP_011528142.1:p.Gln463Ter | |
| XM_011529841.1:c.1243C>T | XP_011528143.1:p.Gln415Ter | |
| XM_011529842.1:c.1144C>T | XP_011528144.1:p.Gln382Ter | |
| XM_011529843.1:c.1114C>T | XP_011528145.1:p.Gln372Ter | |
| XM_011529845.1:c.652C>T | XP_011528147.1:p.Gln218Ter | |
| XR_937805.1:n.1474C>T | ||
| NM_001349956.1:c.1114C>T | NP_001336885.1:p.Gln372Ter | |
| NM_007194.4:c.1315C>T MANE Select | NP_009125.1:p.Gln439Ter | |
| XM_006724114.3:c.868C>T | XP_006724177.2:p.Gln290Ter | |
| XM_011529839.2:c.1474C>T | XP_011528141.1:p.Gln492Ter | |
| XM_011529840.3:c.1387C>T | XP_011528142.1:p.Gln463Ter | |
| XM_011529842.2:c.1144C>T | XP_011528144.1:p.Gln382Ter | |
| XM_011529845.2:c.652C>T | XP_011528147.1:p.Gln218Ter | |
| XM_017028560.1:c.1438C>T | XP_016884049.1:p.Gln480Ter | |
| XM_017028561.2:c.652C>T | XP_016884050.1:p.Gln218Ter | |
| XM_024452148.1:c.1345C>T | XP_024307916.1:p.Gln449Ter | |
| XM_024452149.1:c.1258C>T | XP_024307917.1:p.Gln420Ter | |
| XR_937805.2:n.1485C>T | ||
| NM_001005735.2:c.1444C>T | NP_001005735.1:p.Gln482Ter | |
| NM_001257387.2:c.652C>T | NP_001244316.1:p.Gln218Ter | |
| NM_001349956.2:c.1114C>T | NP_001336885.1:p.Gln372Ter |