Linked Data
ClinVar Variation Id:
360320
dbSNP Id:
rs200957609
ExAC:
7:4824629 G / A
gnomAD v2:
7-4824629-G-A
gnomAD v3:
7-4784998-G-A
gnomAD v4:
7-4784998-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4784998G>A , CM000669.2:g.4784998G>A | GRCh38 |
| NC_000007.13:g.4824629G>A , CM000669.1:g.4824629G>A | GRCh37 |
| NC_000007.12:g.4791155G>A | NCBI36 |
| NG_028111.1:g.14368G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.639G>A | ||
| ENST00000496303.6:n.709G>A | ||
| ENST00000647628.1:n.372G>A | ||
| ENST00000647984.1:c.*226G>A | ENSP00000497794.1:n.*226G>A | |
| ENST00000648925.1:c.881G>A | ENSP00000496830.1:p.Arg294Gln | |
| ENST00000649063.2:c.881G>A MANE Select | ENSP00000497815.1:p.Arg294Gln | |
| ENST00000649315.1:c.91G>A | ||
| ENST00000649419.1:n.88G>A | ||
| ENST00000650310.1:c.881G>A | ENSP00000497395.1:p.Arg294Gln | |
| ENST00000348624.4:c.881G>A | ENSP00000297562.4:p.Arg294Gln | |
| ENST00000477680.5:n.639G>A | ||
| ENST00000491375.1:n.736G>A | ||
| ENST00000496303.5:n.945G>A | ||
| NM_014855.2:c.881G>A | NP_055670.1:p.Arg294Gln | |
| XR_242109.1:n.906G>A | ||
| NM_001364858.1:c.413G>A | NP_001351787.1:p.Arg138Gln | |
| NM_014855.3:c.881G>A MANE Select | NP_055670.1:p.Arg294Gln | |
| NR_157345.1:n.974G>A |