Linked Data
ClinVar Variation Id:
101038
dbSNP Id:
rs587777180
ExAC:
22:21348256 G / A
gnomAD v2:
22-21348256-G-A
gnomAD v3:
22-20993967-G-A
gnomAD v4:
22-20993967-G-A
COSMIC:
COSM3972870
PubMed:
PMID:24362817
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20993967G>A , CM000684.2:g.20993967G>A | GRCh38 |
| NC_000022.10:g.21348256G>A , CM000684.1:g.21348256G>A | GRCh37 |
| NC_000022.9:g.19678256G>A | NCBI36 |
| NG_034193.1:g.16699G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.1397G>A | ENSP00000515073.1:p.Arg466Gln | |
| ENST00000495142.6:n.742G>A | ||
| ENST00000642151.1:c.1228G>A | ||
| ENST00000643578.1:n.1419G>A | ||
| ENST00000643710.1:n.258G>A | ||
| ENST00000646124.2:c.1397G>A MANE Select | ENSP00000496779.1:p.Arg466Gln | |
| ENST00000646506.1:n.976G>A | ||
| ENST00000215739.12:c.1397G>A | ENSP00000215739.8:p.Arg466Gln | |
| ENST00000479606.5:n.1543G>A | ||
| ENST00000492480.1:n.446G>A | ||
| NM_006767.3:c.1397G>A | NP_006758.2:p.Arg466Gln | |
| NM_006767.4:c.1397G>A MANE Select | NP_006758.2:p.Arg466Gln |