Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711350T>C , CM000677.2:g.44711350T>C | GRCh38 |
| NC_000015.9:g.45003548T>C , CM000677.1:g.45003548T>C | GRCh37 |
| NC_000015.8:g.42790840T>C | NCBI36 |
| NG_012920.1:g.4864T>C | |
| NG_012920.2:g.4874T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011521338.1:c.-584A>G | XP_011519640.1:n.-584A>G | |
| XM_011521339.1:c.-465A>G | XP_011519641.1:n.-465A>G | |
| XM_011521340.1:c.-406A>G | XP_011519642.1:n.-406A>G | |
| XM_011521343.1:c.-668A>G | XP_011519645.1:n.-668A>G | |
| XM_011521345.1:c.-639A>G | XP_011519647.1:n.-639A>G | |
| XM_011521338.3:c.-584A>G | XP_011519640.1:n.-584A>G | |
| XM_011521339.3:c.-465A>G | XP_011519641.1:n.-465A>G | |
| XM_011521340.3:c.-406A>G | XP_011519642.1:n.-406A>G | |
| XM_011521343.3:c.-668A>G | XP_011519645.1:n.-668A>G | |
| XM_011521345.3:c.-639A>G | XP_011519647.1:n.-639A>G | |
| NM_001387260.1:c.-94A>G | NP_001374189.1:n.-94A>G |