Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15184323G= , CM000681.2:g.15184323G= | GRCh38 |
| NC_000019.9:g.15295134G= , CM000681.1:g.15295134G= | GRCh37 |
| NC_000019.8:g.15156134G= | NCBI36 |
| NG_009819.1:g.21659C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263388.7:c.2538C= MANE Select | ENSP00000263388.1:p.Cys846= | |
| ENST00000263388.6:c.2538C= | ENSP00000263388.1:p.Cys846= | |
| ENST00000601011.1:c.2407+583C= | ENSP00000473138.1:n.2407+583C= | |
| NM_000435.2:c.2538C= | NP_000426.2:p.Cys846= | |
| XM_005259924.3:c.2410+583C= | XP_005259981.1:n.2410+583C= | |
| XM_005259924.4:c.2410+583C= | XP_005259981.1:n.2410+583C= | |
| NM_000435.3:c.2538C= MANE Select | NP_000426.2:p.Cys846= |