Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180158A= , CM000681.2:g.15180158A= | GRCh38 |
| NC_000019.9:g.15290969A= , CM000681.1:g.15290969A= | GRCh37 |
| NC_000019.8:g.15151969A= | NCBI36 |
| NG_009819.1:g.25824T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3241T= MANE Select | ENSP00000263388.1:p.Cys1081= | |
| ENST00000263388.6:c.3241T= | ENSP00000263388.1:p.Cys1081= | |
| ENST00000601011.1:c.3082T= | ENSP00000473138.1:p.Cys1028= | |
| NM_000435.2:c.3241T= | NP_000426.2:p.Cys1081= | |
| XM_005259924.3:c.3085T= | XP_005259981.1:p.Cys1029= | |
| XM_005259924.4:c.3085T= | XP_005259981.1:p.Cys1029= | |
| NM_000435.3:c.3241T= MANE Select | NP_000426.2:p.Cys1081= |