Linked Data
ClinVar Variation Id:
52625
dbSNP Id:
rs80359114
ExAC:
13:32945178 A / G
gnomAD v2:
13-32945178-A-G
gnomAD v3:
13-32371041-A-G
gnomAD v4:
13-32371041-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32371041A>G , CM000675.2:g.32371041A>G | GRCh38 |
| NC_000013.10:g.32945178A>G , CM000675.1:g.32945178A>G | GRCh37 |
| NC_000013.9:g.31843178A>G | NCBI36 |
| NG_012772.3:g.60562A>G , LRG_293:g.60562A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8573A>G | ENSP00000434898.2:p.Gln2858Arg | |
| ENST00000528762.2:c.8573A>G | ENSP00000433168.2:p.Gln2858Arg | |
| ENST00000530893.7:c.8204A>G | ENSP00000499438.2:p.Gln2735Arg | |
| ENST00000665585.2:c.8573A>G | ENSP00000499570.2:p.Gln2858Arg | |
| ENST00000666593.2:c.8573A>G | ENSP00000499256.2:p.Gln2858Arg | |
| ENST00000700202.2:c.8573A>G | ENSP00000514856.2:p.Gln2858Arg | |
| ENST00000700202.1:c.1040A>G | ENSP00000514856.1:p.Gln347Arg | |
| ENST00000380152.8:c.8573A>G MANE Select | ENSP00000369497.3:p.Gln2858Arg | |
| ENST00000544455.6:c.8573A>G | ENSP00000439902.1:p.Gln2858Arg | |
| ENST00000614259.2:c.8581A>G | ENSP00000506251.1:n.8581A>G | |
| ENST00000665585.1:c.1138A>G | ||
| ENST00000680887.1:c.8573A>G | ENSP00000505508.1:p.Gln2858Arg | |
| ENST00000380152.7:c.8573A>G | ENSP00000369497.3:p.Gln2858Arg | |
| ENST00000528762.1:c.71A>G | ENSP00000433168.1:p.Gln24Arg | |
| ENST00000544455.5:c.8573A>G | ENSP00000439902.1:p.Gln2858Arg | |
| NM_000059.3:c.8573A>G , LRG_293t1:c.8573A>G | NP_000050.2:p.Gln2858Arg | |
| XM_011535203.1:c.8573A>G | XP_011533505.1:p.Gln2858Arg | |
| XM_011535204.1:c.8477A>G | XP_011533506.1:p.Gln2826Arg | |
| XM_011535205.1:c.8573A>G | XP_011533507.1:p.Gln2858Arg | |
| NM_000059.4:c.8573A>G MANE Select | NP_000050.3:p.Gln2858Arg |