Linked Data
ClinVar Variation Id:
594727
ClinVar RCV Id:
RCV000730086
dbSNP Id:
rs1568060971
gnomAD v4:
17-81511185-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81511185T>C , CM000679.2:g.81511185T>C | GRCh38 |
| NC_000017.10:g.79478211T>C , CM000679.1:g.79478211T>C | GRCh37 |
| NC_000017.9:g.77092806T>C | NCBI36 |
| NG_011433.1:g.6617A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570382.2:c.802+3A>G | ENSP00000466346.2:n.802+3A>G | |
| ENST00000571691.6:c.730+3A>G | ENSP00000461407.2:n.730+3A>G | |
| ENST00000571721.6:c.802+3A>G | ENSP00000460660.2:n.802+3A>G | |
| ENST00000572105.7:c.*246+3A>G | ENSP00000462823.1:n.*246+3A>G | |
| ENST00000573283.7:c.802+3A>G MANE Select | ENSP00000458435.1:n.802+3A>G | |
| ENST00000574671.6:n.1202+3A>G | ||
| ENST00000575659.6:c.802+3A>G | ENSP00000459119.2:n.802+3A>G | |
| ENST00000575994.6:c.802+3A>G | ENSP00000460464.2:n.802+3A>G | |
| ENST00000576214.3:n.1103+3A>G | ||
| ENST00000576544.6:c.802+3A>G | ENSP00000461672.1:n.802+3A>G | |
| ENST00000615544.5:c.802+3A>G | ENSP00000477968.1:n.802+3A>G | |
| ENST00000644774.2:c.775+3A>G | ENSP00000493648.2:n.775+3A>G | |
| ENST00000679410.1:n.929A>G | ||
| ENST00000679480.1:c.802+3A>G | ENSP00000506201.1:n.802+3A>G | |
| ENST00000679535.1:n.1103+3A>G | ||
| ENST00000679778.1:c.802+3A>G | ENSP00000505235.1:n.802+3A>G | |
| ENST00000680227.1:c.802+3A>G | ENSP00000506253.1:n.802+3A>G | |
| ENST00000680727.1:c.802+3A>G | ENSP00000505193.1:n.802+3A>G | |
| ENST00000681052.1:c.802+3A>G | ENSP00000505060.1:n.802+3A>G | |
| ENST00000681092.1:c.*606+3A>G | ENSP00000506720.1:n.*606+3A>G | |
| ENST00000681842.1:c.802+3A>G | ENSP00000506126.1:n.802+3A>G | |
| ENST00000331925.6:c.802+3A>G | ENSP00000331514.2:n.802+3A>G | |
| ENST00000572105.6:c.*246+3A>G | ENSP00000462823.1:n.*246+3A>G | |
| ENST00000573283.5:c.802+3A>G | ENSP00000458435.1:n.802+3A>G | |
| ENST00000574671.5:n.661+3A>G | ||
| ENST00000575087.5:c.802+3A>G | ENSP00000459124.1:n.802+3A>G | |
| ENST00000575842.5:c.802+3A>G | ENSP00000458162.1:n.802+3A>G | |
| ENST00000576209.5:n.687+3A>G | ||
| ENST00000576214.2:n.1000+3A>G | ||
| ENST00000576544.5:c.802+3A>G | ENSP00000461672.1:n.802+3A>G | |
| ENST00000576917.5:n.858A>G | ||
| ENST00000615544.4:c.802+3A>G | ENSP00000477968.1:n.802+3A>G | |
| NM_001199954.1:c.802+3A>G | NP_001186883.1:n.802+3A>G | |
| NM_001614.3:c.802+3A>G | NP_001605.1:n.802+3A>G | |
| NR_037688.1:n.941+3A>G | ||
| NM_001199954.2:c.802+3A>G | NP_001186883.1:n.802+3A>G | |
| NM_001614.4:c.802+3A>G | NP_001605.1:n.802+3A>G | |
| NR_037688.2:n.874+3A>G | ||
| NM_001614.5:c.802+3A>G MANE Select | NP_001605.1:n.802+3A>G | |
| NR_037688.3:n.874+3A>G | ||
| NM_001199954.3:c.802+3A>G | NP_001186883.1:n.802+3A>G |