Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895352G>A , CM000685.2:g.141895352G>A | GRCh38 |
| NC_000023.10:g.140983138G>A , CM000685.1:g.140983138G>A | GRCh37 |
| NC_000023.9:g.140810804G>A | NCBI36 |
| NG_013272.1:g.62037G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298296.1:c.993G>A MANE Select | ENSP00000298296.1:p.Glu331= | |
| ENST00000443323.2:c.-118-1079G>A | ENSP00000438254.1:n.-118-1079G>A | |
| ENST00000483584.5:n.233G>A | ||
| ENST00000544766.5:c.-295G>A | ENSP00000440444.1:n.-295G>A | |
| NM_138702.1:c.993G>A MANE Select | NP_619647.1:p.Glu331= | |
| NM_177456.2:c.-295G>A | NP_803251.1:n.-295G>A | |
| XM_011531267.1:c.-218G>A | XP_011529569.1:n.-218G>A | |
| XM_011531267.3:c.-218G>A | XP_011529569.1:n.-218G>A | |
| XM_017029265.2:c.-295G>A | XP_016884754.1:n.-295G>A |