Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001979C>A , CM000663.2:g.94001979C>A | GRCh38 |
| NC_000001.10:g.94467535C>A , CM000663.1:g.94467535C>A | GRCh37 |
| NC_000001.9:g.94240123C>A | NCBI36 |
| NG_009073.1:g.124171G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6161G>T MANE Select | ENSP00000359245.3:p.Ser2054Ile | |
| ENST00000370225.3:c.6161G>T | ENSP00000359245.3:p.Ser2054Ile | |
| ENST00000465352.1:n.577G>T | ||
| ENST00000536513.5:c.2537G>T | ENSP00000439707.2:p.Ser846Ile | |
| NM_000350.2:c.6161G>T | NP_000341.2:p.Ser2054Ile | |
| NM_000350.3:c.6161G>T MANE Select | NP_000341.2:p.Ser2054Ile |