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