Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965584C>T , CM000663.2:g.11965584C>T | GRCh38 |
| NC_000001.10:g.12025641C>T , CM000663.1:g.12025641C>T | GRCh37 |
| NC_000001.9:g.11948228C>T | NCBI36 |
| NG_008159.1:g.35896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1575C>T MANE Select | ENSP00000196061.4:p.Ser525= | |
| ENST00000196061.4:c.1575C>T | ENSP00000196061.4:p.Ser525= | |
| ENST00000470133.1:n.189C>T | ||
| ENST00000491536.5:n.203C>T | ||
| NM_000302.3:c.1575C>T | NP_000293.2:p.Ser525= | |
| NM_001316320.1:c.1716C>T | NP_001303249.1:p.Ser572= | |
| XM_011541594.1:c.1656C>T | XP_011539896.1:p.Ser552= | |
| XM_024447707.1:c.909C>T | XP_024303475.1:p.Ser303= | |
| NM_000302.4:c.1575C>T MANE Select | NP_000293.2:p.Ser525= | |
| NM_001316320.2:c.1716C>T | NP_001303249.1:p.Ser572= |