Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50118561G>C , CM000676.2:g.50118561G>C | GRCh38 |
| NC_000014.8:g.50585279G>C , CM000676.1:g.50585279G>C | GRCh37 |
| NC_000014.7:g.49655029G>C | NCBI36 |
| NG_051073.1:g.118133C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.3782C>G MANE Select | NP_008870.2:p.Thr1261Ser |
| ENST00000216373.10:c.3782C>G MANE Select | ENSP00000216373.5:p.Thr1261Ser |
| NM_006939.2:c.3782C>G | NP_008870.2:p.Thr1261Ser |
| NM_006939.3:c.3782C>G | NP_008870.2:p.Thr1261Ser |
| ENST00000216373.9:c.3782C>G | ENSP00000216373.5:p.Thr1261Ser |
| ENST00000543680.5:c.3683C>G | ENSP00000445328.1:p.Thr1228Ser |
| XM_005268021.1:c.3602C>G | XP_005268078.1:p.Thr1201Ser |
| XM_011537103.1:c.3743C>G | XP_011535405.1:p.Thr1248Ser |