Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40405740C>A , CM000677.2:g.40405740C>A | GRCh38 |
| NC_000015.9:g.40697941C>A , CM000677.1:g.40697941C>A | GRCh37 |
| NC_000015.8:g.38485233C>A | NCBI36 |
| NG_011986.1:g.5256C>A | |
| NG_011986.2:g.5256C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650656.1:c.-79C>A | ENSP00000498731.1:n.-79C>A | |
| ENST00000651168.1:c.-79C>A | ENSP00000499074.1:n.-79C>A | |
| NM_001159508.1:c.-79C>A | NP_001152980.1:n.-79C>A | |
| NM_002225.3:c.-79C>A | NP_002216.2:n.-79C>A | |
| XR_429453.2:n.23C>A |