Linked Data
ClinVar Variation Id:
103235
ClinVar RCV Id:
RCV000089495
dbSNP Id:
rs199475810
ExAC:
11:281812 G / A
gnomAD v2:
11-281812-G-A
gnomAD v3:
11-281812-G-A
gnomAD v4:
11-281812-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.281812G>A , CM000673.2:g.281812G>A | GRCh38 |
| NC_000011.9:g.281812G>A , CM000673.1:g.281812G>A | GRCh37 |
| NC_000011.8:g.271812G>A | NCBI36 |
| NG_050573.1:g.8448G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534750.6:c.2078G>A MANE Select | ENSP00000433617.1:p.Arg693Gln | |
| ENST00000312165.5:c.2078G>A | ENSP00000309767.4:p.Arg693Gln | |
| ENST00000534750.5:c.2078G>A | ENSP00000433617.1:p.Arg693Gln | |
| NM_001276700.1:c.2078G>A | NP_001263629.1:p.Arg693Gln | |
| NM_138329.2:c.2078G>A | NP_612202.2:p.Arg693Gln | |
| XM_011519931.1:c.2078G>A | XP_011518233.1:p.Arg693Gln | |
| XR_930848.1:n.2283G>A | ||
| XM_017017253.2:c.1592G>A | XP_016872742.1:p.Arg531Gln | |
| XR_002957127.1:n.2283G>A | ||
| NM_001276700.2:c.2078G>A MANE Select | NP_001263629.1:p.Arg693Gln |