Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104928169G>T , CM000671.2:g.104928169G>T | GRCh38 |
| NC_000009.11:g.107690450G>T , CM000671.1:g.107690450G>T | GRCh37 |
| NC_000009.10:g.106730271G>T | NCBI36 |
| NG_007981.1:g.4987C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.7:c.-327C>A | ENSP00000363868.3:n.-327C>A | |
| NM_005502.3:c.-327C>A | NP_005493.2:n.-327C>A | |
| XM_011518342.1:c.-390C>A | XP_011516644.1:n.-390C>A | |
| XR_930204.1:n.734+259G>T | ||
| XM_011518342.3:c.-390C>A | XP_011516644.1:n.-390C>A | |
| XR_930204.2:n.115+259G>T |