Linked Data
ClinVar Variation Id:
3175030
ClinVar RCV Id:
RCV004474378
dbSNP Id:
rs140086027
ExAC:
3:44438276 G / A
gnomAD v2:
3-44438276-G-A
gnomAD v3:
3-44396784-G-A
gnomAD v4:
3-44396784-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.44396784G>A , CM000665.2:g.44396784G>A | GRCh38 |
| NC_000003.11:g.44438276G>A , CM000665.1:g.44438276G>A | GRCh37 |
| NC_000003.10:g.44413280G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342649.9:c.835G>A MANE Select | ENSP00000341539.4:p.Val279Met | |
| ENST00000342649.8:c.835G>A | ENSP00000341539.4:p.Val279Met | |
| ENST00000412611.6:c.*411G>A | ENSP00000392032.2:n.*411G>A | |
| ENST00000417237.5:c.835G>A | ENSP00000402581.1:p.Val279Met | |
| ENST00000417768.1:c.*411G>A | ENSP00000402604.1:n.*411G>A | |
| ENST00000431657.5:c.*535G>A | ENSP00000387842.1:n.*535G>A | |
| NM_001282913.1:c.835G>A | NP_001269842.1:p.Val279Met | |
| NM_001282914.1:c.403G>A | NP_001269843.1:p.Val135Met | |
| NM_001282915.1:c.403G>A | NP_001269844.1:p.Val135Met | |
| NM_173826.3:c.835G>A | NP_776187.2:p.Val279Met | |
| XM_011533621.1:c.403G>A | XP_011531923.1:p.Val135Met | |
| XR_001740117.2:n.2169G>A | ||
| XR_001740118.2:n.2641G>A | ||
| NM_173826.4:c.835G>A MANE Select | NP_776187.2:p.Val279Met | |
| NM_001282913.2:c.835G>A | NP_001269842.1:p.Val279Met | |
| NM_001282914.2:c.403G>A | NP_001269843.1:p.Val135Met | |
| NM_001282915.2:c.403G>A | NP_001269844.1:p.Val135Met |