Linked Data
ClinVar Variation Id:
52603
ClinVar RCV Id:
RCV000113945
RCV000502951
RCV000985604
RCV000571631
RCV001007900
RCV002272042
RCV003483454
RCV001379438
dbSNP Id:
rs81002806
gnomAD v4:
13-32370560-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32370560A>G , CM000675.2:g.32370560A>G | GRCh38 |
| NC_000013.10:g.32944697A>G , CM000675.1:g.32944697A>G | GRCh37 |
| NC_000013.9:g.31842697A>G | NCBI36 |
| NG_012772.3:g.60081A>G , LRG_293:g.60081A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8487+3A>G | ENSP00000434898.2:n.8487+3A>G | |
| ENST00000528762.2:c.8487+3A>G | ENSP00000433168.2:n.8487+3A>G | |
| ENST00000530893.7:c.8118+3A>G | ENSP00000499438.2:n.8118+3A>G | |
| ENST00000665585.2:c.8487+3A>G | ENSP00000499570.2:n.8487+3A>G | |
| ENST00000666593.2:c.8487+3A>G | ENSP00000499256.2:n.8487+3A>G | |
| ENST00000700202.2:c.8487+3A>G | ENSP00000514856.2:n.8487+3A>G | |
| ENST00000700202.1:c.954+3A>G | ENSP00000514856.1:n.954+3A>G | |
| ENST00000380152.8:c.8487+3A>G MANE Select | ENSP00000369497.3:n.8487+3A>G | |
| ENST00000544455.6:c.8487+3A>G | ENSP00000439902.1:n.8487+3A>G | |
| ENST00000614259.2:c.8495+3A>G | ENSP00000506251.1:n.8495+3A>G | |
| ENST00000665585.1:c.1052+3A>G | ||
| ENST00000680887.1:c.8487+3A>G | ENSP00000505508.1:n.8487+3A>G | |
| ENST00000380152.7:c.8487+3A>G | ENSP00000369497.3:n.8487+3A>G | |
| ENST00000544455.5:c.8487+3A>G | ENSP00000439902.1:n.8487+3A>G | |
| NM_000059.3:c.8487+3A>G , LRG_293t1:c.8487+3A>G | NP_000050.2:n.8487+3A>G | |
| XM_011535203.1:c.8487+3A>G | XP_011533505.1:n.8487+3A>G | |
| XM_011535204.1:c.8391+3A>G | XP_011533506.1:n.8391+3A>G | |
| XM_011535205.1:c.8487+3A>G | XP_011533507.1:n.8487+3A>G | |
| NM_000059.4:c.8487+3A>G MANE Select | NP_000050.3:n.8487+3A>G |