Linked Data
gnomAD v4:
X-141895294-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895294C>A , CM000685.2:g.141895294C>A | GRCh38 |
| NC_000023.10:g.140983080C>A , CM000685.1:g.140983080C>A | GRCh37 |
| NC_000023.9:g.140810746C>A | NCBI36 |
| NG_013272.1:g.61979C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298296.1:c.935C>A MANE Select | ENSP00000298296.1:p.Ala312Glu | |
| ENST00000443323.2:c.-118-1137C>A | ENSP00000438254.1:n.-118-1137C>A | |
| ENST00000483584.5:n.175C>A | ||
| ENST00000544766.5:c.-353C>A | ENSP00000440444.1:n.-353C>A | |
| NM_138702.1:c.935C>A MANE Select | NP_619647.1:p.Ala312Glu | |
| NM_177456.2:c.-353C>A | NP_803251.1:n.-353C>A | |
| XM_011531267.1:c.-276C>A | XP_011529569.1:n.-276C>A | |
| XM_011531267.3:c.-276C>A | XP_011529569.1:n.-276C>A | |
| XM_017029265.2:c.-353C>A | XP_016884754.1:n.-353C>A |