Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110162250C>T , CM000675.2:g.110162250C>T | GRCh38 |
| NC_000013.10:g.110814597C>T , CM000675.1:g.110814597C>T | GRCh37 |
| NC_000013.9:g.109612598C>T | NCBI36 |
| NG_011544.2:g.149900G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001845.6:c.4442G>A MANE Select | NP_001836.3:p.Arg1481Gln |
| ENST00000375820.10:c.4442G>A MANE Select | ENSP00000364979.4:p.Arg1481Gln |
| NM_001845.5:c.4442G>A | NP_001836.3:p.Arg1481Gln |
| ENST00000375820.8:c.4442G>A | ENSP00000364979.4:p.Arg1481Gln |
| ENST00000467182.1:n.221G>A | |
| ENST00000474391.1:n.289G>A | |
| ENST00000649720.1:n.610G>A | |
| ENST00000650424.1:c.598G>A | |
| XM_011521048.1:c.4250G>A | XP_011519350.1:p.Arg1417Gln |
| XM_011521048.2:c.4250G>A | XP_011519350.1:p.Arg1417Gln |