Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445716C>T , CM000663.2:g.15445716C>T | GRCh38 |
| NC_000001.10:g.15772211C>T , CM000663.1:g.15772211C>T | GRCh37 |
| NC_000001.9:g.15644798C>T | NCBI36 |
| NG_009253.1:g.12274C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007272.3:c.759C>T MANE Select | NP_009203.2:p.Thr253= |
| ENST00000375949.5:c.759C>T MANE Select | ENSP00000365116.4:p.Thr253= |
| NM_007272.2:c.759C>T | NP_009203.2:p.Thr253= |
| ENST00000375943.6:c.*213C>T | ENSP00000365110.2:n.*213C>T |
| ENST00000375949.4:c.759C>T | ENSP00000365116.4:p.Thr253= |
| ENST00000483406.1:n.523C>T | |
| XM_011540550.1:c.613C>T | XP_011538852.1:p.Pro205Ser |