Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106496119C>A , CM000674.2:g.106496119C>A | GRCh38 |
| NC_000012.11:g.106889897C>A , CM000674.1:g.106889897C>A | GRCh37 |
| NC_000012.10:g.105414027C>A | NCBI36 |
| NG_031837.1:g.143462C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228347.9:c.2778C>A MANE Select | ENSP00000228347.4:p.Asp926Glu | |
| ENST00000228347.8:c.2778C>A | ENSP00000228347.4:p.Asp926Glu | |
| ENST00000539066.5:c.2604C>A | ENSP00000445721.1:p.Asp868Glu | |
| NM_001160708.1:c.2604C>A | NP_001154180.1:p.Asp868Glu | |
| NM_018082.5:c.2778C>A | NP_060552.4:p.Asp926Glu | |
| XM_017019621.2:c.2778C>A | XP_016875110.1:p.Asp926Glu | |
| NM_018082.6:c.2778C>A MANE Select | NP_060552.4:p.Asp926Glu | |
| NM_001160708.2:c.2604C>A | NP_001154180.1:p.Asp868Glu |