Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94019664C>T , CM000663.2:g.94019664C>T | GRCh38 |
| NC_000001.10:g.94485220C>T , CM000663.1:g.94485220C>T | GRCh37 |
| NC_000001.9:g.94257808C>T | NCBI36 |
| NG_009073.1:g.106486G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.5114G>A MANE Select | NP_000341.2:p.Arg1705Gln |
| ENST00000370225.4:c.5114G>A MANE Select | ENSP00000359245.3:p.Arg1705Gln |
| NM_000350.2:c.5114G>A | NP_000341.2:p.Arg1705Gln |
| ENST00000370225.3:c.5114G>A | ENSP00000359245.3:p.Arg1705Gln |
| ENST00000460514.1:n.608G>A | |
| ENST00000470771.1:n.224G>A | |
| ENST00000536513.5:c.1490G>A | ENSP00000439707.2:p.Arg497Gln |