Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15160960G= , CM000681.2:g.15160960G= | GRCh38 |
| NC_000019.9:g.15271771G= , CM000681.1:g.15271771G= | GRCh37 |
| NC_000019.8:g.15132771G= | NCBI36 |
| NG_009819.1:g.45022C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000435.3:c.6668C= MANE Select | NP_000426.2:p.Ala2223= |
| ENST00000263388.7:c.6668C= MANE Select | ENSP00000263388.1:p.Ala2223= |
| NM_000435.2:c.6668C= | NP_000426.2:p.Ala2223= |
| ENST00000263388.6:c.6668C= | ENSP00000263388.1:p.Ala2223= |
| XM_005259924.3:c.6512C= | XP_005259981.1:p.Ala2171= |
| XM_005259924.4:c.6512C= | XP_005259981.1:p.Ala2171= |