Linked Data
ClinVar Variation Id:
360305
dbSNP Id:
rs775883752
ExAC:
7:4821278 G / A
gnomAD v2:
7-4821278-G-A
gnomAD v3:
7-4781647-G-A
gnomAD v4:
7-4781647-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4781647G>A , CM000669.2:g.4781647G>A | GRCh38 |
| NC_000007.13:g.4821278G>A , CM000669.1:g.4821278G>A | GRCh37 |
| NC_000007.12:g.4787804G>A | NCBI36 |
| NG_028111.1:g.11017G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.125-1669G>A | ||
| ENST00000496303.6:n.35G>A | ||
| ENST00000647984.1:c.179+335G>A | ENSP00000497794.1:n.179+335G>A | |
| ENST00000648925.1:c.259G>A | ENSP00000496830.1:p.Ala87Thr | |
| ENST00000649063.2:c.259G>A MANE Select | ENSP00000497815.1:p.Ala87Thr | |
| ENST00000650310.1:c.259G>A | ENSP00000497395.1:p.Ala87Thr | |
| ENST00000650451.1:c.179+335G>A | ENSP00000496998.1:n.179+335G>A | |
| ENST00000348624.4:c.259G>A | ENSP00000297562.4:p.Ala87Thr | |
| ENST00000477680.5:n.125-1669G>A | ||
| ENST00000496303.5:n.323G>A | ||
| NM_014855.2:c.259G>A | NP_055670.1:p.Ala87Thr | |
| XR_242109.1:n.284G>A | ||
| NM_001364858.1:c.-103+335G>A | NP_001351787.1:n.-103+335G>A | |
| NM_014855.3:c.259G>A MANE Select | NP_055670.1:p.Ala87Thr | |
| NR_157345.1:n.352G>A |