Linked Data
ClinVar Variation Id:
52559
ClinVar RCV Id:
RCV000045488
RCV000077435
RCV000129468
RCV000148441
RCV000769704
RCV001269526
RCV003473419
RCV004542707
dbSNP Id:
rs80359076
ExAC:
13:32944558 G / A
gnomAD v2:
13-32944558-G-A
gnomAD v3:
13-32370421-G-A
gnomAD v4:
13-32370421-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32370421G>A , CM000675.2:g.32370421G>A | GRCh38 |
| NC_000013.10:g.32944558G>A , CM000675.1:g.32944558G>A | GRCh37 |
| NC_000013.9:g.31842558G>A | NCBI36 |
| NG_012772.3:g.59942G>A , LRG_293:g.59942G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8351G>A | ENSP00000434898.2:p.Arg2784Gln | |
| ENST00000528762.2:c.8351G>A | ENSP00000433168.2:p.Arg2784Gln | |
| ENST00000530893.7:c.7982G>A | ENSP00000499438.2:p.Arg2661Gln | |
| ENST00000665585.2:c.8351G>A | ENSP00000499570.2:p.Arg2784Gln | |
| ENST00000666593.2:c.8351G>A | ENSP00000499256.2:p.Arg2784Gln | |
| ENST00000700202.2:c.8351G>A | ENSP00000514856.2:p.Arg2784Gln | |
| ENST00000700202.1:c.818G>A | ENSP00000514856.1:p.Arg273Gln | |
| ENST00000380152.8:c.8351G>A MANE Select | ENSP00000369497.3:p.Arg2784Gln | |
| ENST00000544455.6:c.8351G>A | ENSP00000439902.1:p.Arg2784Gln | |
| ENST00000614259.2:c.8359G>A | ENSP00000506251.1:n.8359G>A | |
| ENST00000665585.1:c.916G>A | ||
| ENST00000680887.1:c.8351G>A | ENSP00000505508.1:p.Arg2784Gln | |
| ENST00000380152.7:c.8351G>A | ENSP00000369497.3:p.Arg2784Gln | |
| ENST00000544455.5:c.8351G>A | ENSP00000439902.1:p.Arg2784Gln | |
| NM_000059.3:c.8351G>A , LRG_293t1:c.8351G>A | NP_000050.2:p.Arg2784Gln | |
| XM_011535203.1:c.8351G>A | XP_011533505.1:p.Arg2784Gln | |
| XM_011535204.1:c.8255G>A | XP_011533506.1:p.Arg2752Gln | |
| XM_011535205.1:c.8351G>A | XP_011533507.1:p.Arg2784Gln | |
| NM_000059.4:c.8351G>A MANE Select | NP_000050.3:p.Arg2784Gln |