Linked Data
ClinVar Variation Id:
38236
dbSNP Id:
rs397507427
ExAC:
13:32968952 G / A
gnomAD v2:
13-32968952-G-A
gnomAD v4:
13-32394815-G-A
PubMed:
PMID:25363760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394815G>A , CM000675.2:g.32394815G>A | GRCh38 |
| NC_000013.10:g.32968952G>A , CM000675.1:g.32968952G>A | GRCh37 |
| NC_000013.9:g.31866952G>A | NCBI36 |
| NG_012772.3:g.84336G>A , LRG_293:g.84336G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9383G>A | ENSP00000434898.2:p.Arg3128Gln | |
| ENST00000528762.2:c.*750G>A | ENSP00000433168.2:n.*750G>A | |
| ENST00000530893.7:c.9014G>A | ENSP00000499438.2:p.Arg3005Gln | |
| ENST00000665585.2:c.*945G>A | ENSP00000499570.2:n.*945G>A | |
| ENST00000666593.2:c.*228G>A | ENSP00000499256.2:n.*228G>A | |
| ENST00000700202.2:c.9332G>A | ENSP00000514856.2:p.Arg3111Gln | |
| ENST00000700202.1:c.1799G>A | ENSP00000514856.1:p.Arg600Gln | |
| ENST00000700203.1:n.1510G>A | ||
| ENST00000380152.8:c.9383G>A MANE Select | ENSP00000369497.3:p.Arg3128Gln | |
| ENST00000544455.6:c.9383G>A | ENSP00000439902.1:p.Arg3128Gln | |
| ENST00000614259.2:c.9391G>A | ENSP00000506251.1:n.9391G>A | |
| ENST00000665585.1:c.2261G>A | ||
| ENST00000666593.1:c.405G>A | ENSP00000499256.1:n.405G>A | |
| ENST00000680887.1:c.9383G>A | ENSP00000505508.1:p.Arg3128Gln | |
| ENST00000380152.7:c.9383G>A | ENSP00000369497.3:p.Arg3128Gln | |
| ENST00000470094.1:c.340G>A | ||
| ENST00000544455.5:c.9383G>A | ENSP00000439902.1:p.Arg3128Gln | |
| NM_000059.3:c.9383G>A , LRG_293t1:c.9383G>A | NP_000050.2:p.Arg3128Gln | |
| XM_011535203.1:c.9383G>A | XP_011533505.1:p.Arg3128Gln | |
| XM_011535204.1:c.9287G>A | XP_011533506.1:p.Arg3096Gln | |
| NM_000059.4:c.9383G>A MANE Select | NP_000050.3:p.Arg3128Gln |