Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536513A>G , CM000679.2:g.42536513A>G | GRCh38 |
| NC_000017.10:g.40688531A>G , CM000679.1:g.40688531A>G | GRCh37 |
| NC_000017.9:g.37942057A>G | NCBI36 |
| NG_011552.1:g.5581A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.241A>G MANE Select | ENSP00000225927.1:p.Thr81Ala | |
| ENST00000225927.6:c.241A>G | ENSP00000225927.1:p.Thr81Ala | |
| NM_000263.3:c.241A>G | NP_000254.2:p.Thr81Ala | |
| XM_024450771.1:c.241A>G | XP_024306539.1:p.Thr81Ala | |
| NM_000263.4:c.241A>G MANE Select | NP_000254.2:p.Thr81Ala |