Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103574315G>A , CM000663.2:g.103574315G>A | GRCh38 |
| NC_000001.10:g.104116937G>A , CM000663.1:g.104116937G>A | GRCh37 |
| NC_000001.9:g.103918460G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001387437.1:c.800G>A MANE Select | NP_001374366.1:p.Arg267Gln |
| ENST00000684275.1:c.800G>A MANE Select | ENSP00000507176.1:p.Arg267Gln |
| NM_001386109.1:c.800G>A | NP_001373038.1:p.Arg267Gln |
| NM_020978.4:c.800G>A | NP_066188.1:p.Arg267Gln |
| ENST00000361355.8:c.800G>A | ENSP00000354610.4:p.Arg267Gln |
| ENST00000477657.5:c.800G>A | ENSP00000433347.1:p.Arg267Gln |
| ENST00000491397.1:n.4069G>A | |
| ENST00000610648.1:c.800G>A | ENSP00000481588.1:p.Arg267Gln |