Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44819488C>G , CM000681.2:g.44819488C>G | GRCh38 |
| NC_000019.9:g.45322745C>G , CM000681.1:g.45322745C>G | GRCh37 |
| NC_000019.8:g.50014585C>G | NCBI36 |
| NG_007480.1:g.15408C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005581.5:c.1616C>G MANE Select | NP_005572.2:p.Thr539Ser |
| ENST00000270233.12:c.1616C>G MANE Select | ENSP00000270233.5:p.Thr539Ser |
| NM_001013257.2:c.1616C>G | NP_001013275.1:p.Thr539Ser |
| NM_005581.4:c.1616C>G | NP_005572.2:p.Thr539Ser |
| ENST00000270233.10:c.1616C>G | ENSP00000270233.5:p.Thr539Ser |
| ENST00000588714.1:n.242C>G | |
| ENST00000589651.5:c.1616C>G | ENSP00000476710.1:p.Thr539Ser |
| ENST00000611077.4:c.1616C>G | ENSP00000481153.1:p.Thr539Ser |
| ENST00000611077.5:c.1616C>G | ENSP00000481153.1:p.Thr539Ser |