Linked Data
ClinVar Variation Id:
465789
ClinVar RCV Id:
RCV000528874
dbSNP Id:
rs139576982
ExAC:
11:821676 G / A
gnomAD v2:
11-821676-G-A
gnomAD v3:
11-821676-G-A
gnomAD v4:
11-821676-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.821676G>A , CM000673.2:g.821676G>A | GRCh38 |
| NC_000011.9:g.821676G>A , CM000673.1:g.821676G>A | GRCh37 |
| NC_000011.8:g.811676G>A | NCBI36 |
| NG_023394.1:g.7776G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336615.9:c.236G>A MANE Select | ENSP00000337701.4:p.Arg79Gln | |
| ENST00000336615.8:c.236G>A | ENSP00000337701.4:p.Arg79Gln | |
| ENST00000525250.5:n.842G>A | ||
| ENST00000617551.1:c.-1015G>A | ENSP00000481602.1:n.-1015G>A | |
| NM_020376.3:c.236G>A | NP_065109.1:p.Arg79Gln | |
| XM_006718265.2:c.236G>A | XP_006718328.1:p.Arg79Gln | |
| XM_006718266.2:c.236G>A | XP_006718329.1:p.Arg79Gln | |
| XM_006718265.3:c.236G>A | XP_006718328.1:p.Arg79Gln | |
| XM_006718266.3:c.236G>A | XP_006718329.1:p.Arg79Gln | |
| XM_017018028.1:c.236G>A | XP_016873517.1:p.Arg79Gln | |
| XM_024448618.1:c.236G>A | XP_024304386.1:p.Arg79Gln | |
| NM_020376.4:c.236G>A MANE Select | NP_065109.1:p.Arg79Gln |