Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352876C>A , CM000679.2:g.44352876C>A | GRCh38 |
| NC_000017.10:g.42430244C>A , CM000679.1:g.42430244C>A | GRCh37 |
| NC_000017.9:g.39785770C>A | NCBI36 |
| NG_007886.1:g.12754C>A , LRG_661:g.12754C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002087.4:c.*78C>A MANE Select | NP_002078.1:n.*78C>A |
| ENST00000053867.8:c.*78C>A MANE Select | ENSP00000053867.2:n.*78C>A |
| NM_002087.3:c.*78C>A | NP_002078.1:n.*78C>A |
| ENST00000053867.7:c.*78C>A | ENSP00000053867.2:n.*78C>A |
| ENST00000586242.1:c.439C>A | |
| ENST00000586443.1:c.1390C>A | |
| ENST00000589265.5:c.*78C>A | ENSP00000467616.1:n.*78C>A |
| XM_005257253.1:c.*78C>A | XP_005257310.1:n.*78C>A |
| XM_024450730.1:c.*78C>A | XP_024306498.1:n.*78C>A |