Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41178823C>T , CM000684.2:g.41178823C>T | GRCh38 |
| NC_000022.10:g.41574827C>T , CM000684.1:g.41574827C>T | GRCh37 |
| NC_000022.9:g.39904773C>T | NCBI36 |
| NG_009817.1:g.91214C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001429.4:c.7112C>T MANE Select | NP_001420.2:p.Ser2371Leu |
| ENST00000263253.9:c.7112C>T MANE Select | ENSP00000263253.7:p.Ser2371Leu |
| NM_001362843.1:c.7034C>T | NP_001349772.1:p.Ser2345Leu |
| NM_001362843.2:c.7034C>T | NP_001349772.1:p.Ser2345Leu |
| NM_001429.3:c.7112C>T | NP_001420.2:p.Ser2371Leu |
| ENST00000263253.8:c.7112C>T | ENSP00000263253.7:p.Ser2371Leu |
| ENST00000674155.1:c.7034C>T | ENSP00000501078.1:p.Ser2345Leu |
| XM_006724165.2:c.7034C>T | XP_006724228.1:p.Ser2345Leu |