ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1222987G>A , CM000681.2:g.1222987G>A | GRCh38 |
| NC_000019.9:g.1222986G>A , CM000681.1:g.1222986G>A | GRCh37 |
| NC_000019.8:g.1173986G>A | NCBI36 |
| NG_007460.2:g.38581G>A , LRG_319:g.38581G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.923G>A | ENSP00000490268.2:p.Trp308Ter | |
| ENST00000585748.3:c.551G>A | ENSP00000477641.2:p.Trp184Ter | |
| ENST00000585851.2:c.749G>A | ENSP00000467912.2:p.Trp250Ter | |
| ENST00000326873.12:c.923G>A MANE Select | ENSP00000324856.6:p.Trp308Ter | |
| ENST00000652231.1:c.923G>A | ENSP00000498804.1:p.Trp308Ter | |
| ENST00000326873.11:c.923G>A | ENSP00000324856.6:p.Trp308Ter | |
| ENST00000586243.5:c.923G>A | ENSP00000467240.2:p.Trp308Ter | |
| ENST00000589152.5:n.1621G>A | ||
| ENST00000591133.2:n.894G>A | ||
| NM_000455.4:c.923G>A , LRG_319t1:c.923G>A | NP_000446.1:p.Trp308Ter | |
| XM_005259617.1:c.923G>A | XP_005259674.1:p.Trp308Ter | |
| XM_005259618.3:c.923G>A | XP_005259675.1:p.Trp308Ter | |
| XM_011528209.1:c.701G>A | XP_011526511.1:p.Trp234Ter | |
| XR_936204.1:n.1699G>A | ||
| XM_005259617.3:c.923G>A | XP_005259674.1:p.Trp308Ter | |
| XM_011528209.2:c.701G>A | XP_011526511.1:p.Trp234Ter | |
| XR_001753738.2:n.1729G>A | ||
| XR_001753739.1:n.1729G>A | ||
| XR_001753740.2:n.1699G>A | ||
| NM_000455.5:c.923G>A MANE Select | NP_000446.1:p.Trp308Ter |