Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52029715C>T , CM000666.2:g.52029715C>T | GRCh38 |
| NC_000004.11:g.52895881C>T , CM000666.1:g.52895881C>T | GRCh37 |
| NC_000004.10:g.52590638C>T | NCBI36 |
| NG_008891.1:g.13605G>A , LRG_204:g.13605G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.392G>A MANE Select | NP_000223.1:p.Arg131Gln |
| ENST00000381431.10:c.392G>A MANE Select | ENSP00000370839.6:p.Arg131Gln |
| NM_000232.4:c.392G>A , LRG_204t1:c.392G>A | NP_000223.1:p.Arg131Gln |
| ENST00000381431.9:c.392G>A | ENSP00000370839.5:p.Arg131Gln |
| ENST00000506357.5:c.475G>A | |
| ENST00000514133.1:c.469G>A | ENSP00000425818.1:n.469G>A |
| XM_006714049.2:c.95G>A | XP_006714112.1:p.Arg32Gln |
| XM_011534403.1:c.182G>A | XP_011532705.1:p.Arg61Gln |
| XM_011534404.1:c.95G>A | XP_011532706.1:p.Arg32Gln |