Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44111623T>A , CM000669.2:g.44111623T>A | GRCh38 |
| NC_000007.13:g.44151222T>A , CM000669.1:g.44151222T>A | GRCh37 |
| NC_000007.12:g.44117747T>A | NCBI36 |
| NG_056775.1:g.12304T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223357.8:c.1833T>A MANE Select | ENSP00000223357.3:p.His611Gln | |
| ENST00000223357.7:c.1833T>A | ENSP00000223357.3:p.His611Gln | |
| ENST00000413907.1:c.152T>A | ||
| ENST00000431035.1:c.117T>A | ENSP00000416568.1:p.His39Gln | |
| ENST00000450684.2:c.558T>A | ENSP00000398878.2:p.His186Gln | |
| NM_001129.4:c.1833T>A | NP_001120.3:p.His611Gln | |
| XM_011515162.1:c.1755T>A | XP_011513464.1:p.His585Gln | |
| NM_001129.5:c.1833T>A MANE Select | NP_001120.3:p.His611Gln |