Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895269C>A , CM000685.2:g.141895269C>A | GRCh38 |
| NC_000023.10:g.140983055C>A , CM000685.1:g.140983055C>A | GRCh37 |
| NC_000023.9:g.140810721C>A | NCBI36 |
| NG_013272.1:g.61954C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298296.1:c.910C>A MANE Select | ENSP00000298296.1:p.Pro304Thr | |
| ENST00000443323.2:c.-118-1162C>A | ENSP00000438254.1:n.-118-1162C>A | |
| ENST00000483584.5:n.150C>A | ||
| ENST00000544766.5:c.-378C>A | ENSP00000440444.1:n.-378C>A | |
| NM_138702.1:c.910C>A MANE Select | NP_619647.1:p.Pro304Thr | |
| NM_177456.2:c.-378C>A | NP_803251.1:n.-378C>A | |
| XM_011531267.1:c.-301C>A | XP_011529569.1:n.-301C>A | |
| XM_011531267.3:c.-301C>A | XP_011529569.1:n.-301C>A | |
| XM_017029265.2:c.-378C>A | XP_016884754.1:n.-378C>A |