Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136677470C>T , CM000671.2:g.136677470C>T | GRCh38 |
| NC_000009.11:g.139571922C>T , CM000671.1:g.139571922C>T | GRCh37 |
| NC_000009.10:g.138691743C>T | NCBI36 |
| NG_008090.1:g.14990G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.269G>A MANE Select | ENSP00000360761.2:p.Arg90His | |
| ENST00000371694.7:c.269G>A | ENSP00000360759.3:p.Arg90His | |
| ENST00000371696.6:c.269G>A | ENSP00000360761.2:p.Arg90His | |
| ENST00000470861.1:n.277G>A | ||
| ENST00000538402.1:c.269G>A | ENSP00000438919.1:p.Arg90His | |
| NM_001012727.1:c.269G>A | NP_001012745.1:p.Arg90His | |
| NM_006412.3:c.269G>A | NP_006403.2:p.Arg90His | |
| NM_006412.4:c.269G>A MANE Select | NP_006403.2:p.Arg90His | |
| NM_001012727.2:c.269G>A | NP_001012745.1:p.Arg90His |