Linked Data
ClinVar Variation Id:
3893
ClinVar RCV Id:
RCV000004097
dbSNP Id:
rs797044432
gnomAD v3:
15-72356524-C-G
gnomAD v4:
15-72356524-C-G
PubMed:
PMID:1833974
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72356524C>G , CM000677.2:g.72356524C>G | GRCh38 |
| NC_000015.9:g.72648865C>G , CM000677.1:g.72648865C>G | GRCh37 |
| NC_000015.8:g.70435919C>G | NCBI36 |
| NG_009017.1:g.24656G>C | |
| NG_009017.2:g.24656G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563908.2:n.359+1G>C | ||
| ENST00000567027.6:c.346+1G>C | ENSP00000457521.2:n.346+1G>C | |
| ENST00000568260.2:c.346+1G>C | ENSP00000458128.2:n.346+1G>C | |
| ENST00000682061.1:c.346+1G>C | ENSP00000508316.1:n.346+1G>C | |
| ENST00000682177.1:c.346+1G>C | ENSP00000507409.1:n.346+1G>C | |
| ENST00000682461.1:c.610+1G>C | ENSP00000507308.1:n.610+1G>C | |
| ENST00000682653.1:n.377+1G>C | ||
| ENST00000682657.1:c.254-5290G>C | ENSP00000507753.1:n.254-5290G>C | |
| ENST00000682721.1:c.*149+1G>C | ENSP00000507535.1:n.*149+1G>C | |
| ENST00000682843.1:c.*244+1G>C | ENSP00000508173.1:n.*244+1G>C | |
| ENST00000683003.1:c.346+1G>C | ENSP00000507576.1:n.346+1G>C | |
| ENST00000683133.1:c.530+1G>C | ENSP00000508108.1:n.530+1G>C | |
| ENST00000683228.1:n.377+1G>C | ||
| ENST00000683243.1:c.346+1G>C | ENSP00000507042.1:n.346+1G>C | |
| ENST00000683463.1:c.346+1G>C | ENSP00000507986.1:n.346+1G>C | |
| ENST00000683548.1:n.377+1G>C | ||
| ENST00000683579.1:c.*244+1G>C | ENSP00000506867.1:n.*244+1G>C | |
| ENST00000683587.1:n.377+1G>C | ||
| ENST00000683681.1:c.346+1G>C | ENSP00000508110.1:n.346+1G>C | |
| ENST00000683735.1:c.*244+1G>C | ENSP00000508336.1:n.*244+1G>C | |
| ENST00000683853.1:c.346+1G>C | ENSP00000506834.1:n.346+1G>C | |
| ENST00000683860.1:c.346+1G>C | ENSP00000507179.1:n.346+1G>C | |
| ENST00000683884.1:c.346+1G>C | ENSP00000507004.1:n.346+1G>C | |
| ENST00000684041.1:c.346+1G>C | ENSP00000508382.1:n.346+1G>C | |
| ENST00000684125.1:c.346+1G>C | ENSP00000507320.1:n.346+1G>C | |
| ENST00000684203.1:n.363+1G>C | ||
| ENST00000684231.1:c.346+1G>C | ENSP00000507748.1:n.346+1G>C | |
| ENST00000684263.1:c.346+1G>C | ENSP00000508369.1:n.346+1G>C | |
| ENST00000684305.1:c.794+1G>C | ENSP00000506819.1:n.794+1G>C | |
| ENST00000684415.1:c.346+1G>C | ENSP00000507227.1:n.346+1G>C | |
| ENST00000684520.1:c.346+1G>C | ENSP00000506826.1:n.346+1G>C | |
| ENST00000684602.1:c.*170+1G>C | ENSP00000507996.1:n.*170+1G>C | |
| ENST00000684667.1:c.610+1G>C | ENSP00000507003.1:n.610+1G>C | |
| ENST00000268097.10:c.346+1G>C MANE Select | ENSP00000268097.6:n.346+1G>C | |
| ENST00000268097.9:c.346+1G>C | ENSP00000268097.5:n.346+1G>C | |
| ENST00000379915.4:c.346+1G>C | ENSP00000478716.1:n.346+1G>C | |
| ENST00000563762.5:c.437+1G>C | ENSP00000456346.1:n.437+1G>C | |
| ENST00000563908.1:n.343+1G>C | ||
| ENST00000566304.5:c.379+1G>C | ENSP00000455114.1:n.379+1G>C | |
| ENST00000566672.5:c.346+1G>C | ENSP00000457037.1:n.346+1G>C | |
| ENST00000567027.5:c.218+1G>C | ||
| ENST00000567159.5:c.346+1G>C | ENSP00000456489.1:n.346+1G>C | |
| ENST00000567411.5:c.346+1G>C | ENSP00000455545.1:n.346+1G>C | |
| ENST00000568260.1:c.327+1G>C | ||
| ENST00000568777.5:n.3929+1G>C | ||
| ENST00000569410.5:c.346+1G>C | ENSP00000457125.1:n.346+1G>C | |
| ENST00000569509.5:n.351+1G>C | ||
| NM_000520.4:c.346+1G>C | NP_000511.2:n.346+1G>C | |
| NM_000520.5:c.346+1G>C | NP_000511.2:n.346+1G>C | |
| NM_001318825.1:c.379+1G>C | NP_001305754.1:n.379+1G>C | |
| NR_134869.1:n.847+1G>C | ||
| NM_000520.6:c.346+1G>C MANE Select | NP_000511.2:n.346+1G>C | |
| NM_001318825.2:c.379+1G>C | NP_001305754.1:n.379+1G>C | |
| NR_134869.2:n.388+1G>C | ||
| NR_134869.3:n.388+1G>C |