Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54758326G>A , CM000663.2:g.54758326G>A | GRCh38 |
| NC_000001.10:g.55223999G>A , CM000663.1:g.55223999G>A | GRCh37 |
| NC_000001.9:g.54996587G>A | NCBI36 |
| NG_042048.1:g.11228C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152268.4:c.836C>T MANE Select | NP_689481.2:p.Ser279Leu |
| ENST00000371279.4:c.836C>T MANE Select | ENSP00000360327.3:p.Ser279Leu |
| NM_152268.3:c.836C>T | NP_689481.2:p.Ser279Leu |
| ENST00000371279.3:c.836C>T | ENSP00000360327.3:p.Ser279Leu |
| XM_011541203.1:c.1013C>T | XP_011539505.1:p.Ser338Leu |