Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20759894C>A , CM000686.2:g.20759894C>A | GRCh38 |
| NC_000024.9:g.22921780C>A , CM000686.1:g.22921780C>A | GRCh37 |
| NC_000024.8:g.21331168C>A | NCBI36 |
| NG_032924.1:g.8827C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000629237.2:c.108C>A MANE Select | ENSP00000486252.1:p.His36Gln | |
| ENST00000629237.1:c.108C>A | ENSP00000486252.1:p.His36Gln | |
| NM_001039567.2:c.108C>A | NP_001034656.1:p.His36Gln | |
| XM_011531423.1:c.57C>A | XP_011529725.1:p.His19Gln | |
| NM_001039567.3:c.108C>A MANE Select | NP_001034656.1:p.His36Gln |