Linked Data
ClinVar Variation Id:
1021779
ClinVar RCV Id:
RCV001321597
dbSNP Id:
rs781916823
ExAC:
X:53459268 G / A
gnomAD v3:
X-53432320-G-A
gnomAD v4:
X-53432320-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53432320G>A , CM000685.2:g.53432320G>A | GRCh38 |
| NC_000023.10:g.53459268G>A , CM000685.1:g.53459268G>A | GRCh37 |
| NC_000023.9:g.53475993G>A | NCBI36 |
| NG_008153.1:g.7056C>T , LRG_450:g.7056C>T | |
| NG_033076.2:g.14466G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495986.2:n.428C>T | ||
| ENST00000682365.1:n.1619C>T | ||
| ENST00000684251.1:n.128C>T | ||
| ENST00000684503.1:n.449C>T | ||
| ENST00000684692.1:c.284C>T | ENSP00000506792.1:p.Ala95Val | |
| ENST00000168216.11:c.284C>T MANE Select | ENSP00000168216.6:p.Ala95Val | |
| ENST00000168216.10:c.284C>T | ENSP00000168216.6:p.Ala95Val | |
| ENST00000375298.4:c.284C>T | ENSP00000364447.4:p.Ala95Val | |
| ENST00000375304.9:c.284C>T | ENSP00000364453.5:p.Ala95Val | |
| ENST00000477706.1:n.3C>T | ||
| ENST00000495986.1:n.416C>T | ||
| NM_001037811.2:c.284C>T , LRG_450t2:c.284C>T | NP_001032900.1:p.Ala95Val | |
| NM_004493.2:c.284C>T , LRG_450t1:c.284C>T | NP_004484.1:p.Ala95Val | |
| NM_004493.3:c.284C>T MANE Select | NP_004484.1:p.Ala95Val |