Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57950442G>A , CM000678.2:g.57950442G>A | GRCh38 |
| NC_000016.9:g.57984346G>A , CM000678.1:g.57984346G>A | GRCh37 |
| NC_000016.8:g.56541847G>A | NCBI36 |
| NG_016351.1:g.25675C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001297.5:c.973C>T MANE Select | NP_001288.3:p.Gln325Ter |
| ENST00000251102.13:c.973C>T MANE Select | ENSP00000251102.8:p.Gln325Ter |
| NM_001286130.1:c.955C>T | NP_001273059.1:p.Gln319Ter |
| NM_001286130.2:c.955C>T | NP_001273059.1:p.Gln319Ter |
| NM_001297.4:c.973C>T | NP_001288.3:p.Gln325Ter |
| ENST00000251102.12:c.973C>T | ENSP00000251102.8:p.Gln325Ter |
| ENST00000564448.5:c.955C>T | ENSP00000454633.1:p.Gln319Ter |
| XM_006721134.2:c.973C>T | XP_006721197.1:p.Gln325Ter |