Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94019664C>A , CM000663.2:g.94019664C>A | GRCh38 |
| NC_000001.10:g.94485220C>A , CM000663.1:g.94485220C>A | GRCh37 |
| NC_000001.9:g.94257808C>A | NCBI36 |
| NG_009073.1:g.106486G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.5114G>T MANE Select | NP_000341.2:p.Arg1705Leu |
| ENST00000370225.4:c.5114G>T MANE Select | ENSP00000359245.3:p.Arg1705Leu |
| NM_000350.2:c.5114G>T | NP_000341.2:p.Arg1705Leu |
| ENST00000370225.3:c.5114G>T | ENSP00000359245.3:p.Arg1705Leu |
| ENST00000460514.1:n.608G>T | |
| ENST00000470771.1:n.224G>T | |
| ENST00000536513.5:c.1490G>T | ENSP00000439707.2:p.Arg497Leu |