Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15179052G>A , CM000681.2:g.15179052G>A | GRCh38 |
| NC_000019.9:g.15289863G>A , CM000681.1:g.15289863G>A | GRCh37 |
| NC_000019.8:g.15150863G>A | NCBI36 |
| NG_009819.1:g.26930C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000435.3:c.3691C>T MANE Select | NP_000426.2:p.Arg1231Cys |
| ENST00000263388.7:c.3691C>T MANE Select | ENSP00000263388.1:p.Arg1231Cys |
| NM_000435.2:c.3691C>T | NP_000426.2:p.Arg1231Cys |
| ENST00000263388.6:c.3691C>T | ENSP00000263388.1:p.Arg1231Cys |
| ENST00000595045.1:n.527C>T | |
| ENST00000600841.1:n.169C>T | |
| ENST00000601011.1:c.3532C>T | ENSP00000473138.1:p.Arg1178Cys |
| XM_005259924.3:c.3535C>T | XP_005259981.1:p.Arg1179Cys |
| XM_005259924.4:c.3535C>T | XP_005259981.1:p.Arg1179Cys |