Linked Data
ClinVar Variation Id:
52759
dbSNP Id:
rs81002862
ExAC:
13:32954142 A / G
gnomAD v2:
13-32954142-A-G
gnomAD v3:
13-32380005-A-G
gnomAD v4:
13-32380005-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32380005A>G , CM000675.2:g.32380005A>G | GRCh38 |
| NC_000013.10:g.32954142A>G , CM000675.1:g.32954142A>G | GRCh37 |
| NC_000013.9:g.31852142A>G | NCBI36 |
| NG_012772.3:g.69526A>G , LRG_293:g.69526A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9118-2A>G | ENSP00000434898.2:n.9118-2A>G | |
| ENST00000528762.2:c.*485-2A>G | ENSP00000433168.2:n.*485-2A>G | |
| ENST00000530893.7:c.8749-2A>G | ENSP00000499438.2:n.8749-2A>G | |
| ENST00000665585.2:c.*680-2A>G | ENSP00000499570.2:n.*680-2A>G | |
| ENST00000666593.2:c.9118-2A>G | ENSP00000499256.2:n.9118-2A>G | |
| ENST00000700202.2:c.9067-2A>G | ENSP00000514856.2:n.9067-2A>G | |
| ENST00000700202.1:c.1534-2A>G | ENSP00000514856.1:n.1534-2A>G | |
| ENST00000700203.1:n.1245-2A>G | ||
| ENST00000380152.8:c.9118-2A>G MANE Select | ENSP00000369497.3:n.9118-2A>G | |
| ENST00000544455.6:c.9118-2A>G | ENSP00000439902.1:n.9118-2A>G | |
| ENST00000614259.2:c.9126-2A>G | ENSP00000506251.1:n.9126-2A>G | |
| ENST00000665585.1:c.1996-2A>G | ||
| ENST00000680887.1:c.9118-2A>G | ENSP00000505508.1:n.9118-2A>G | |
| ENST00000380152.7:c.9118-2A>G | ENSP00000369497.3:n.9118-2A>G | |
| ENST00000470094.1:c.75-2A>G | ||
| ENST00000544455.5:c.9118-2A>G | ENSP00000439902.1:n.9118-2A>G | |
| NM_000059.3:c.9118-2A>G , LRG_293t1:c.9118-2A>G | NP_000050.2:n.9118-2A>G | |
| XM_011535203.1:c.9118-2A>G | XP_011533505.1:n.9118-2A>G | |
| XM_011535204.1:c.9022-2A>G | XP_011533506.1:n.9022-2A>G | |
| NM_000059.4:c.9118-2A>G MANE Select | NP_000050.3:n.9118-2A>G |