Linked Data
ClinVar Variation Id:
3779
dbSNP Id:
rs1126809
ExAC:
11:89017961 G / A
gnomAD v2:
11-89017961-G-A
gnomAD v3:
11-89284793-G-A
gnomAD v4:
11-89284793-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89284793G>A , CM000673.2:g.89284793G>A | GRCh38 |
| NC_000011.9:g.89017961G>A , CM000673.1:g.89017961G>A | GRCh37 |
| NC_000011.8:g.88657609G>A | NCBI36 |
| NG_008748.1:g.111922G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263321.6:c.1205G>A MANE Select | ENSP00000263321.4:p.Arg402Gln | |
| ENST00000263321.5:c.1205G>A | ENSP00000263321.4:p.Arg402Gln | |
| ENST00000528243.1:n.203G>A | ||
| NM_000372.4:c.1205G>A | NP_000363.1:p.Arg402Gln | |
| XM_011542970.1:c.1205G>A | XP_011541272.1:p.Arg402Gln | |
| XM_011542970.2:c.1205G>A | XP_011541272.1:p.Arg402Gln | |
| XR_001748321.1:n.2456+1241C>T | ||
| XR_001748322.1:n.2457+1241C>T | ||
| NM_000372.5:c.1205G>A MANE Select | NP_000363.1:p.Arg402Gln |