Linked Data
ClinVar Variation Id:
360310
ClinVar RCV Id:
RCV000863728
dbSNP Id:
rs201203264
ExAC:
7:4822997 G / A
gnomAD v2:
7-4822997-G-A
gnomAD v3:
7-4783366-G-A
gnomAD v4:
7-4783366-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4783366G>A , CM000669.2:g.4783366G>A | GRCh38 |
| NC_000007.13:g.4822997G>A , CM000669.1:g.4822997G>A | GRCh37 |
| NC_000007.12:g.4789523G>A | NCBI36 |
| NG_028111.1:g.12736G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.175G>A | ||
| ENST00000496303.6:n.340-323G>A | ||
| ENST00000647984.1:c.230G>A | ENSP00000497794.1:p.Arg77His | |
| ENST00000648925.1:c.417G>A | ENSP00000496830.1:p.Ala139= | |
| ENST00000649063.2:c.417G>A MANE Select | ENSP00000497815.1:p.Ala139= | |
| ENST00000650310.1:c.417G>A | ENSP00000497395.1:p.Ala139= | |
| ENST00000650451.1:c.180-837G>A | ENSP00000496998.1:n.180-837G>A | |
| ENST00000348624.4:c.417G>A | ENSP00000297562.4:p.Ala139= | |
| ENST00000477680.5:n.175G>A | ||
| ENST00000491375.1:n.44G>A | ||
| ENST00000496303.5:n.481G>A | ||
| NM_014855.2:c.417G>A | NP_055670.1:p.Ala139= | |
| XR_242109.1:n.442G>A | ||
| NM_001364858.1:c.-52G>A | NP_001351787.1:n.-52G>A | |
| NM_014855.3:c.417G>A MANE Select | NP_055670.1:p.Ala139= | |
| NR_157345.1:n.510G>A |