Linked Data
ClinVar Variation Id:
3175024
ClinVar RCV Id:
RCV004474372
dbSNP Id:
rs142277459
ExAC:
3:44442046 G / A
gnomAD v2:
3-44442046-G-A
gnomAD v3:
3-44400554-G-A
gnomAD v4:
3-44400554-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.44400554G>A , CM000665.2:g.44400554G>A | GRCh38 |
| NC_000003.11:g.44442046G>A , CM000665.1:g.44442046G>A | GRCh37 |
| NC_000003.10:g.44417050G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342649.9:c.1085G>A MANE Select | ENSP00000341539.4:p.Arg362Gln | |
| ENST00000342649.8:c.1085G>A | ENSP00000341539.4:p.Arg362Gln | |
| ENST00000412611.6:c.*661G>A | ENSP00000392032.2:n.*661G>A | |
| ENST00000417237.5:c.1085G>A | ENSP00000402581.1:p.Arg362Gln | |
| ENST00000431657.5:c.*785G>A | ENSP00000387842.1:n.*785G>A | |
| ENST00000469246.1:n.81G>A | ||
| NM_001282913.1:c.1085G>A | NP_001269842.1:p.Arg362Gln | |
| NM_001282914.1:c.653G>A | NP_001269843.1:p.Arg218Gln | |
| NM_001282915.1:c.653G>A | NP_001269844.1:p.Arg218Gln | |
| NM_173826.3:c.1085G>A | NP_776187.2:p.Arg362Gln | |
| XM_011533621.1:c.653G>A | XP_011531923.1:p.Arg218Gln | |
| XR_001740117.2:n.2419G>A | ||
| XR_001740118.2:n.2891G>A | ||
| NM_173826.4:c.1085G>A MANE Select | NP_776187.2:p.Arg362Gln | |
| NM_001282913.2:c.1085G>A | NP_001269842.1:p.Arg362Gln | |
| NM_001282914.2:c.653G>A | NP_001269843.1:p.Arg218Gln | |
| NM_001282915.2:c.653G>A | NP_001269844.1:p.Arg218Gln |