Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168506801C>A , CM000667.2:g.168506801C>A | GRCh38 |
| NC_000005.9:g.167933806C>A , CM000667.1:g.167933806C>A | GRCh37 |
| NC_000005.8:g.167866384C>A | NCBI36 |
| NG_041809.1:g.25344C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002887.4:c.1316C>A MANE Select | NP_002878.2:p.Ala439Asp |
| ENST00000231572.8:c.1316C>A MANE Select | ENSP00000231572.3:p.Ala439Asp |
| NM_002887.3:c.1316C>A | NP_002878.2:p.Ala439Asp |
| ENST00000231572.7:c.1316C>A | ENSP00000231572.3:p.Ala439Asp |
| ENST00000520013.5:c.*817C>A | ENSP00000429030.1:n.*817C>A |