Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711347C= , CM000677.2:g.44711347C= | GRCh38 |
| NC_000015.9:g.45003545C= , CM000677.1:g.45003545C= | GRCh37 |
| NC_000015.8:g.42790837C= | NCBI36 |
| NG_012920.1:g.4861C= | |
| NG_012920.2:g.4871C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011521338.1:c.-581G= | XP_011519640.1:n.-581G= | |
| XM_011521339.1:c.-462G= | XP_011519641.1:n.-462G= | |
| XM_011521340.1:c.-403G= | XP_011519642.1:n.-403G= | |
| XM_011521343.1:c.-665G= | XP_011519645.1:n.-665G= | |
| XM_011521345.1:c.-636G= | XP_011519647.1:n.-636G= | |
| XM_011521338.3:c.-581G= | XP_011519640.1:n.-581G= | |
| XM_011521339.3:c.-462G= | XP_011519641.1:n.-462G= | |
| XM_011521340.3:c.-403G= | XP_011519642.1:n.-403G= | |
| XM_011521343.3:c.-665G= | XP_011519645.1:n.-665G= | |
| XM_011521345.3:c.-636G= | XP_011519647.1:n.-636G= | |
| NM_001387260.1:c.-91G= | NP_001374189.1:n.-91G= |