Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48367495T>A , CM000675.2:g.48367495T>A | GRCh38 |
| NC_000013.10:g.48941631T>A , CM000675.1:g.48941631T>A | GRCh37 |
| NC_000013.9:g.47839632T>A | NCBI36 |
| NG_009009.1:g.68749T>A , LRG_517:g.68749T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.941T>A MANE Select | NP_000312.2:p.Val314Asp |
| ENST00000267163.6:c.941T>A MANE Select | ENSP00000267163.4:p.Val314Asp |
| NM_000321.2:c.941T>A , LRG_517t1:c.941T>A | NP_000312.2:p.Val314Asp |
| ENST00000267163.4:c.941T>A | ENSP00000267163.4:p.Val314Asp |
| ENST00000650461.1:c.941T>A | ENSP00000497193.1:p.Val314Asp |
| XM_011535171.1:c.680T>A | XP_011533473.1:p.Val227Asp |
| XM_011535171.2:c.680T>A | XP_011533473.1:p.Val227Asp |
| XR_002957522.1:n.122-2519A>T |