Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895351A>C , CM000685.2:g.141895351A>C | GRCh38 |
| NC_000023.10:g.140983137A>C , CM000685.1:g.140983137A>C | GRCh37 |
| NC_000023.9:g.140810803A>C | NCBI36 |
| NG_013272.1:g.62036A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298296.1:c.992A>C MANE Select | ENSP00000298296.1:p.Glu331Ala | |
| ENST00000443323.2:c.-118-1080A>C | ENSP00000438254.1:n.-118-1080A>C | |
| ENST00000483584.5:n.232A>C | ||
| ENST00000544766.5:c.-296A>C | ENSP00000440444.1:n.-296A>C | |
| NM_138702.1:c.992A>C MANE Select | NP_619647.1:p.Glu331Ala | |
| NM_177456.2:c.-296A>C | NP_803251.1:n.-296A>C | |
| XM_011531267.1:c.-219A>C | XP_011529569.1:n.-219A>C | |
| XM_011531267.3:c.-219A>C | XP_011529569.1:n.-219A>C | |
| XM_017029265.2:c.-296A>C | XP_016884754.1:n.-296A>C |