Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33443808C= , CM000682.2:g.33443808C= | GRCh38 |
| NC_000020.10:g.32031614C= , CM000682.1:g.32031614C= | GRCh37 |
| NC_000020.9:g.31495275C= | NCBI36 |
| NG_011622.1:g.5085G= , LRG_332:g.5085G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.2:c.-188G= | ENSP00000217381.2:n.-188G= | |
| NM_003098.2:c.-188G= , LRG_332t1:c.-188G= | NP_003089.1:n.-188G= | |
| XM_005260517.1:c.-188G= | XP_005260574.1:n.-188G= | |
| XM_011529007.1:c.-188G= | XP_011527309.1:n.-188G= | |
| XM_011529008.1:c.-188G= | XP_011527310.1:n.-188G= | |
| XR_936612.1:n.46G= |