Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48134287A>G , CM000677.2:g.48134287A>G | GRCh38 |
| NC_000015.9:g.48426484A>G , CM000677.1:g.48426484A>G | GRCh37 |
| NC_000015.8:g.46213776A>G | NCBI36 |
| NG_011500.1:g.18316A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_205850.3:c.331A>G MANE Select | NP_995322.1:p.Thr111Ala |
| ENST00000341459.8:c.331A>G MANE Select | ENSP00000341550.3:p.Thr111Ala |
| NM_205850.2:c.331A>G | NP_995322.1:p.Thr111Ala |
| ENST00000341459.7:c.331A>G | ENSP00000341550.3:p.Thr111Ala |
| ENST00000449382.2:c.151A>G | ENSP00000389966.2:p.Thr51Ala |
| ENST00000463289.1:n.91A>G | |
| XM_011521458.1:c.331A>G | XP_011519760.1:p.Thr111Ala |
| XM_017022079.1:c.-9A>G | XP_016877568.1:n.-9A>G |
| XM_017022080.1:c.-9A>G | XP_016877569.1:n.-9A>G |
| XM_024449901.1:c.-9A>G | XP_024305669.1:n.-9A>G |