Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48362857G>A , CM000675.2:g.48362857G>A | GRCh38 |
| NC_000013.10:g.48936993G>A , CM000675.1:g.48936993G>A | GRCh37 |
| NC_000013.9:g.47834994G>A | NCBI36 |
| NG_009009.1:g.64111G>A , LRG_517:g.64111G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.761G>A MANE Select | NP_000312.2:p.Arg254Lys |
| ENST00000267163.6:c.761G>A MANE Select | ENSP00000267163.4:p.Arg254Lys |
| NM_000321.2:c.761G>A , LRG_517t1:c.761G>A | NP_000312.2:p.Arg254Lys |
| ENST00000267163.4:c.761G>A | ENSP00000267163.4:p.Arg254Lys |
| ENST00000467505.5:c.*129G>A | ENSP00000434702.1:n.*129G>A |
| ENST00000650461.1:c.761G>A | ENSP00000497193.1:p.Arg254Lys |
| XM_011535171.1:c.500G>A | XP_011533473.1:p.Arg167Lys |
| XM_011535171.2:c.500G>A | XP_011533473.1:p.Arg167Lys |