Linked Data
ClinVar Variation Id:
426524
dbSNP Id:
rs72552284
ExAC:
6:24533929 G / A
gnomAD v2:
6-24533929-G-A
gnomAD v3:
6-24533701-G-A
gnomAD v4:
6-24533701-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24533701G>A , CM000668.2:g.24533701G>A | GRCh38 |
| NC_000006.11:g.24533929G>A , CM000668.1:g.24533929G>A | GRCh37 |
| NC_000006.10:g.24641908G>A | NCBI36 |
| NG_008161.1:g.43733G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.1597G>A MANE Select | ENSP00000350191.3:p.Gly533Arg | |
| ENST00000479394.2:n.712G>A | ||
| ENST00000672352.1:c.1216G>A | ENSP00000500876.1:p.Gly406Arg | |
| ENST00000672652.1:c.1560G>A | ||
| ENST00000348925.2:c.1636G>A | ENSP00000314649.3:p.Gly546Arg | |
| ENST00000357578.7:c.1597G>A | ENSP00000350191.3:p.Gly533Arg | |
| ENST00000479394.1:n.712G>A | ||
| ENST00000491546.5:c.1513G>A | ENSP00000417687.1:p.Gly505Arg | |
| ENST00000492697.1:n.363G>A | ||
| NM_001080.3:c.1597G>A MANE Select | NP_001071.1:p.Gly533Arg | |
| NM_170740.1:c.1636G>A | NP_733936.1:p.Gly546Arg | |
| NM_001368954.1:c.1453G>A | NP_001355883.1:p.Gly485Arg |