Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46131995G>A , CM000683.2:g.46131995G>A | GRCh38 |
| NC_000021.8:g.47551909G>A , CM000683.1:g.47551909G>A | GRCh37 |
| NC_000021.7:g.46376337G>A | NCBI36 |
| NG_008675.1:g.38877G>A , LRG_476:g.38877G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001849.4:c.2503G>A MANE Select | NP_001840.3:p.Val835Ile |
| ENST00000300527.9:c.2503G>A MANE Select | ENSP00000300527.4:p.Val835Ile |
| NM_001849.3:c.2503G>A , LRG_476t1:c.2503G>A | NP_001840.3:p.Val835Ile |
| ENST00000300527.8:c.2503G>A | ENSP00000300527.4:p.Val835Ile |
| XM_011529451.1:c.2503G>A | XP_011527753.1:p.Val835Ile |
| XM_011529452.1:c.2503G>A | XP_011527754.1:p.Val835Ile |
| XR_937438.1:n.2580G>A | |
| XR_937438.2:n.2587G>A |