Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94019665G>A , CM000663.2:g.94019665G>A | GRCh38 |
| NC_000001.10:g.94485221G>A , CM000663.1:g.94485221G>A | GRCh37 |
| NC_000001.9:g.94257809G>A | NCBI36 |
| NG_009073.1:g.106485C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.5113C>T MANE Select | NP_000341.2:p.Arg1705Trp |
| ENST00000370225.4:c.5113C>T MANE Select | ENSP00000359245.3:p.Arg1705Trp |
| NM_000350.2:c.5113C>T | NP_000341.2:p.Arg1705Trp |
| ENST00000370225.3:c.5113C>T | ENSP00000359245.3:p.Arg1705Trp |
| ENST00000460514.1:n.607C>T | |
| ENST00000470771.1:n.223C>T | |
| ENST00000536513.5:c.1489C>T | ENSP00000439707.2:p.Arg497Trp |