Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48362848G>A , CM000675.2:g.48362848G>A | GRCh38 |
| NC_000013.10:g.48936984G>A , CM000675.1:g.48936984G>A | GRCh37 |
| NC_000013.9:g.47834985G>A | NCBI36 |
| NG_009009.1:g.64102G>A , LRG_517:g.64102G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.752G>A MANE Select | NP_000312.2:p.Arg251Gln |
| ENST00000267163.6:c.752G>A MANE Select | ENSP00000267163.4:p.Arg251Gln |
| NM_000321.2:c.752G>A , LRG_517t1:c.752G>A | NP_000312.2:p.Arg251Gln |
| ENST00000267163.4:c.752G>A | ENSP00000267163.4:p.Arg251Gln |
| ENST00000467505.5:c.*120G>A | ENSP00000434702.1:n.*120G>A |
| ENST00000650461.1:c.752G>A | ENSP00000497193.1:p.Arg251Gln |
| XM_011535171.1:c.491G>A | XP_011533473.1:p.Arg164Gln |
| XM_011535171.2:c.491G>A | XP_011533473.1:p.Arg164Gln |