Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31381723C>T , CM000664.2:g.31381723C>T | GRCh38 |
| NC_000002.11:g.31604589C>T , CM000664.1:g.31604589C>T | GRCh37 |
| NC_000002.10:g.31458093C>T | NCBI36 |
| NG_008871.1:g.38023G>A | |
| NG_008871.2:g.38023G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000379.4:c.1042G>A MANE Select | NP_000370.2:p.Val348Ile |
| ENST00000379416.4:c.1042G>A MANE Select | ENSP00000368727.3:p.Val348Ile |
| NM_000379.3:c.1042G>A | NP_000370.2:p.Val348Ile |
| ENST00000379416.3:c.1042G>A | ENSP00000368727.3:p.Val348Ile |
| XM_011533095.1:c.1042G>A | XP_011531397.1:p.Val348Ile |
| XM_011533095.2:c.1042G>A | XP_011531397.1:p.Val348Ile |
| XM_011533096.1:c.1042G>A | XP_011531398.1:p.Val348Ile |
| XM_011533096.2:c.1042G>A | XP_011531398.1:p.Val348Ile |