Linked Data
ClinVar Variation Id:
341241
ClinVar RCV Id:
RCV000385193
dbSNP Id:
rs144581584
ExAC:
22:32479101 G / A
gnomAD v2:
22-32479101-G-A
gnomAD v3:
22-32083114-G-A
gnomAD v4:
22-32083114-G-A
COSMIC:
COSM296729
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32083114G>A , CM000684.2:g.32083114G>A | GRCh38 |
| NC_000022.10:g.32479101G>A , CM000684.1:g.32479101G>A | GRCh37 |
| NC_000022.9:g.30809101G>A | NCBI36 |
| NG_017045.1:g.45083G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.624G>A MANE Select | ENSP00000266088.4:p.Thr208= | |
| ENST00000266088.8:c.624G>A | ENSP00000266088.4:p.Thr208= | |
| ENST00000486394.1:n.64G>A | ||
| ENST00000543737.2:c.243G>A | ENSP00000444898.1:p.Thr81= | |
| NM_000343.3:c.624G>A | NP_000334.1:p.Thr208= | |
| NM_001256314.1:c.243G>A | NP_001243243.1:p.Thr81= | |
| XM_011530331.1:c.624G>A | XP_011528633.1:p.Thr208= | |
| XR_938173.1:n.592-14311C>T | ||
| XR_938174.1:n.487-14311C>T | ||
| NM_000343.4:c.624G>A MANE Select | NP_000334.1:p.Thr208= | |
| NM_001256314.2:c.243G>A | NP_001243243.1:p.Thr81= |