Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895343A>G , CM000685.2:g.141895343A>G | GRCh38 |
| NC_000023.10:g.140983129A>G , CM000685.1:g.140983129A>G | GRCh37 |
| NC_000023.9:g.140810795A>G | NCBI36 |
| NG_013272.1:g.62028A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298296.1:c.984A>G MANE Select | ENSP00000298296.1:p.Ala328= | |
| ENST00000443323.2:c.-118-1088A>G | ENSP00000438254.1:n.-118-1088A>G | |
| ENST00000483584.5:n.224A>G | ||
| ENST00000544766.5:c.-304A>G | ENSP00000440444.1:n.-304A>G | |
| NM_138702.1:c.984A>G MANE Select | NP_619647.1:p.Ala328= | |
| NM_177456.2:c.-304A>G | NP_803251.1:n.-304A>G | |
| XM_011531267.1:c.-227A>G | XP_011529569.1:n.-227A>G | |
| XM_011531267.3:c.-227A>G | XP_011529569.1:n.-227A>G | |
| XM_017029265.2:c.-304A>G | XP_016884754.1:n.-304A>G |