Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15160960G>T , CM000681.2:g.15160960G>T | GRCh38 |
| NC_000019.9:g.15271771G>T , CM000681.1:g.15271771G>T | GRCh37 |
| NC_000019.8:g.15132771G>T | NCBI36 |
| NG_009819.1:g.45022C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.6668C>A MANE Select | ENSP00000263388.1:p.Ala2223Glu | |
| ENST00000263388.6:c.6668C>A | ENSP00000263388.1:p.Ala2223Glu | |
| NM_000435.2:c.6668C>A | NP_000426.2:p.Ala2223Glu | |
| XM_005259924.3:c.6512C>A | XP_005259981.1:p.Ala2171Glu | |
| XM_005259924.4:c.6512C>A | XP_005259981.1:p.Ala2171Glu | |
| NM_000435.3:c.6668C>A MANE Select | NP_000426.2:p.Ala2223Glu |