Linked Data
ClinVar Variation Id:
240941
dbSNP Id:
rs368571200
ExAC:
7:4830992 G / A
gnomAD v2:
7-4830992-G-A
gnomAD v3:
7-4791361-G-A
gnomAD v4:
7-4791361-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4791361G>A , CM000669.2:g.4791361G>A | GRCh38 |
| NC_000007.13:g.4830992G>A , CM000669.1:g.4830992G>A | GRCh37 |
| NC_000007.12:g.4797518G>A | NCBI36 |
| NG_028111.1:g.20731G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.2687G>A | ||
| ENST00000496303.6:n.2228G>A | ||
| ENST00000647984.1:c.*1745G>A | ENSP00000497794.1:n.*1745G>A | |
| ENST00000648237.1:c.551G>A | ||
| ENST00000648360.1:c.1080G>A | ||
| ENST00000648925.1:c.*803G>A | ENSP00000496830.1:n.*803G>A | |
| ENST00000649063.2:c.2400G>A MANE Select | ENSP00000497815.1:p.Arg800= | |
| ENST00000649419.1:n.2279G>A | ||
| ENST00000649736.1:n.1263G>A | ||
| ENST00000650310.1:c.*971G>A | ENSP00000497395.1:n.*971G>A | |
| ENST00000650581.1:c.932G>A | ||
| ENST00000348624.4:c.2400G>A | ENSP00000297562.4:p.Arg800= | |
| ENST00000469614.1:n.1948G>A | ||
| ENST00000477680.5:n.2687G>A | ||
| ENST00000490487.1:n.551G>A | ||
| ENST00000496303.5:n.2709G>A | ||
| NM_014855.2:c.2400G>A | NP_055670.1:p.Arg800= | |
| NM_001364858.1:c.1932G>A | NP_001351787.1:p.Arg644= | |
| NM_014855.3:c.2400G>A MANE Select | NP_055670.1:p.Arg800= | |
| NR_157345.1:n.2531G>A |