Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136673840C>T , CM000671.2:g.136673840C>T | GRCh38 |
| NC_000009.11:g.139568292C>T , CM000671.1:g.139568292C>T | GRCh37 |
| NC_000009.10:g.138688113C>T | NCBI36 |
| NG_008090.1:g.18620G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006412.4:c.749G>A MANE Select | NP_006403.2:p.Arg250Gln |
| ENST00000371696.7:c.749G>A MANE Select | ENSP00000360761.2:p.Arg250Gln |
| NM_001012727.1:c.653G>A | NP_001012745.1:p.Arg218Gln |
| NM_001012727.2:c.653G>A | NP_001012745.1:p.Arg218Gln |
| NM_006412.3:c.749G>A | NP_006403.2:p.Arg250Gln |
| ENST00000371694.7:c.653G>A | ENSP00000360759.3:p.Arg218Gln |
| ENST00000371696.6:c.749G>A | ENSP00000360761.2:p.Arg250Gln |
| ENST00000472820.1:n.677G>A | |
| ENST00000538402.1:c.749G>A | ENSP00000438919.1:p.Arg250Gln |