Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895266C>A , CM000685.2:g.141895266C>A | GRCh38 |
| NC_000023.10:g.140983052C>A , CM000685.1:g.140983052C>A | GRCh37 |
| NC_000023.9:g.140810718C>A | NCBI36 |
| NG_013272.1:g.61951C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298296.1:c.910-3C>A MANE Select | ENSP00000298296.1:n.910-3C>A | |
| ENST00000443323.2:c.-118-1165C>A | ENSP00000438254.1:n.-118-1165C>A | |
| ENST00000483584.5:n.150-3C>A | ||
| ENST00000544766.5:c.-378-3C>A | ENSP00000440444.1:n.-378-3C>A | |
| NM_138702.1:c.910-3C>A MANE Select | NP_619647.1:n.910-3C>A | |
| NM_177456.2:c.-378-3C>A | NP_803251.1:n.-378-3C>A | |
| XM_011531267.1:c.-304C>A | XP_011529569.1:n.-304C>A | |
| XM_011531267.3:c.-304C>A | XP_011529569.1:n.-304C>A | |
| XM_017029265.2:c.-378-3C>A | XP_016884754.1:n.-378-3C>A |