Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15444708C>G , CM000663.2:g.15444708C>G | GRCh38 |
| NC_000001.10:g.15771203C>G , CM000663.1:g.15771203C>G | GRCh37 |
| NC_000001.9:g.15643790C>G | NCBI36 |
| NG_009253.1:g.11266C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007272.3:c.596C>G MANE Select | NP_009203.2:p.Thr199Ser |
| ENST00000375949.5:c.596C>G MANE Select | ENSP00000365116.4:p.Thr199Ser |
| NM_007272.2:c.596C>G | NP_009203.2:p.Thr199Ser |
| ENST00000375943.6:c.*94-889C>G | ENSP00000365110.2:n.*94-889C>G |
| ENST00000375949.4:c.596C>G | ENSP00000365116.4:p.Thr199Ser |
| ENST00000483406.1:n.404-889C>G | |
| XM_011540550.1:c.494-889C>G | XP_011538852.1:n.494-889C>G |