Linked Data
ClinVar Variation Id:
52880
dbSNP Id:
rs81002835
gnomAD v2:
13-32971191-T-G
gnomAD v3:
13-32397054-T-G
gnomAD v4:
13-32397054-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32397054T>G , CM000675.2:g.32397054T>G | GRCh38 |
| NC_000013.10:g.32971191T>G , CM000675.1:g.32971191T>G | GRCh37 |
| NC_000013.9:g.31869191T>G | NCBI36 |
| NG_012772.3:g.86575T>G , LRG_293:g.86575T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*171+10T>G | ENSP00000434898.2:n.*171+10T>G | |
| ENST00000528762.2:c.*1015+10T>G | ENSP00000433168.2:n.*1015+10T>G | |
| ENST00000530893.7:c.9279+10T>G | ENSP00000499438.2:n.9279+10T>G | |
| ENST00000665585.2:c.*1210+10T>G | ENSP00000499570.2:n.*1210+10T>G | |
| ENST00000700202.2:c.9597+10T>G | ENSP00000514856.2:n.9597+10T>G | |
| ENST00000700202.1:c.2064+10T>G | ENSP00000514856.1:n.2064+10T>G | |
| ENST00000700203.1:n.1775+10T>G | ||
| ENST00000380152.8:c.9648+10T>G MANE Select | ENSP00000369497.3:n.9648+10T>G | |
| ENST00000544455.6:c.9648+10T>G | ENSP00000439902.1:n.9648+10T>G | |
| ENST00000614259.2:c.9656+10T>G | ENSP00000506251.1:n.9656+10T>G | |
| ENST00000665585.1:c.2526+10T>G | ||
| ENST00000680887.1:c.9648+10T>G | ENSP00000505508.1:n.9648+10T>G | |
| ENST00000380152.7:c.9648+10T>G | ENSP00000369497.3:n.9648+10T>G | |
| ENST00000470094.1:c.731+10T>G | ||
| ENST00000533776.1:n.236+10T>G | ||
| ENST00000544455.5:c.9648+10T>G | ENSP00000439902.1:n.9648+10T>G | |
| NM_000059.3:c.9648+10T>G , LRG_293t1:c.9648+10T>G | NP_000050.2:n.9648+10T>G | |
| XM_011535203.1:c.9648+10T>G | XP_011533505.1:n.9648+10T>G | |
| XM_011535204.1:c.9552+10T>G | XP_011533506.1:n.9552+10T>G | |
| NM_000059.4:c.9648+10T>G MANE Select | NP_000050.3:n.9648+10T>G |