Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210195289C>T , CM000664.2:g.210195289C>T | GRCh38 |
| NC_000002.11:g.211060013C>T , CM000664.1:g.211060013C>T | GRCh37 |
| NC_000002.10:g.210768258C>T | NCBI36 |
| NG_008002.1:g.35203G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001608.4:c.1034G>A MANE Select | NP_001599.1:p.Arg345Gln |
| ENST00000233710.4:c.1034G>A MANE Select | ENSP00000233710.3:p.Arg345Gln |
| NM_001608.3:c.1034G>A | NP_001599.1:p.Arg345Gln |
| ENST00000233710.3:c.1034G>A | ENSP00000233710.3:p.Arg345Gln |
| ENST00000652584.1:n.1262G>A | |
| XM_005246517.3:c.971G>A | XP_005246574.1:p.Arg324Gln |
| XM_005246517.4:c.971G>A | XP_005246574.1:p.Arg324Gln |
| XM_017003955.1:c.611G>A | XP_016859444.1:p.Arg204Gln |