Linked Data
ClinVar Variation Id:
1233124
ClinVar RCV Id:
RCV001617249
dbSNP Id:
rs1033502251
gnomAD v2:
17-79479724-C-T
gnomAD v3:
17-81512698-C-T
gnomAD v4:
17-81512698-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81512698C>T , CM000679.2:g.81512698C>T | GRCh38 |
| NC_000017.10:g.79479724C>T , CM000679.1:g.79479724C>T | GRCh37 |
| NC_000017.9:g.77094319C>T | NCBI36 |
| NG_011433.1:g.5104G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.-90G>A | ENSP00000466346.2:n.-90G>A | |
| ENST00000571691.6:c.-7+36G>A | ENSP00000461407.2:n.-7+36G>A | |
| ENST00000571721.6:c.-241G>A | ENSP00000460660.2:n.-241G>A | |
| ENST00000572105.7:c.-7+36G>A | ENSP00000462823.1:n.-7+36G>A | |
| ENST00000573283.7:c.-7+36G>A MANE Select | ENSP00000458435.1:n.-7+36G>A | |
| ENST00000574671.6:n.118+36G>A | ||
| ENST00000575659.6:c.-6-338G>A | ENSP00000459119.2:n.-6-338G>A | |
| ENST00000575994.6:c.-6-338G>A | ENSP00000460464.2:n.-6-338G>A | |
| ENST00000576214.3:n.118+36G>A | ||
| ENST00000576544.6:c.-7+36G>A | ENSP00000461672.1:n.-7+36G>A | |
| ENST00000615544.5:c.-6-338G>A | ENSP00000477968.1:n.-6-338G>A | |
| ENST00000644774.2:c.-7+36G>A | ENSP00000493648.2:n.-7+36G>A | |
| ENST00000679410.1:n.118+36G>A | ||
| ENST00000679535.1:n.118+36G>A | ||
| ENST00000679778.1:c.-6-338G>A | ENSP00000505235.1:n.-6-338G>A | |
| ENST00000680227.1:c.-90G>A | ENSP00000506253.1:n.-90G>A | |
| ENST00000681052.1:c.-7+36G>A | ENSP00000505060.1:n.-7+36G>A | |
| ENST00000681092.1:c.-7+36G>A | ENSP00000506720.1:n.-7+36G>A | |
| ENST00000681842.1:c.-7+36G>A | ENSP00000506126.1:n.-7+36G>A | |
| ENST00000331925.6:c.-7+36G>A | ENSP00000331514.2:n.-7+36G>A | |
| ENST00000570382.1:c.-7+36G>A | ENSP00000466346.1:n.-7+36G>A | |
| ENST00000571691.5:c.-7+36G>A | ENSP00000461407.1:n.-7+36G>A | |
| ENST00000571721.5:c.-241G>A | ENSP00000460660.1:n.-241G>A | |
| ENST00000572105.6:c.-7+36G>A | ENSP00000462823.1:n.-7+36G>A | |
| ENST00000573283.5:c.-90G>A | ENSP00000458435.1:n.-90G>A | |
| ENST00000575087.5:c.-99G>A | ENSP00000459124.1:n.-99G>A | |
| ENST00000575659.5:c.-6-338G>A | ENSP00000459119.1:n.-6-338G>A | |
| ENST00000575842.5:c.-344G>A | ENSP00000458162.1:n.-344G>A | |
| ENST00000575994.5:c.-6-338G>A | ENSP00000460464.1:n.-6-338G>A | |
| ENST00000576214.2:n.15+36G>A | ||
| ENST00000576544.5:c.-7+36G>A | ENSP00000461672.1:n.-7+36G>A | |
| ENST00000576917.5:n.47+36G>A | ||
| ENST00000615544.4:c.-7+36G>A | ENSP00000477968.1:n.-7+36G>A | |
| NM_001199954.1:c.-90G>A | NP_001186883.1:n.-90G>A | |
| NM_001614.3:c.-7+36G>A | NP_001605.1:n.-7+36G>A | |
| NR_037688.1:n.133+36G>A | ||
| NM_001199954.2:c.-90G>A | NP_001186883.1:n.-90G>A | |
| NM_001614.4:c.-7+36G>A | NP_001605.1:n.-7+36G>A | |
| NR_037688.2:n.66+36G>A | ||
| NM_001614.5:c.-7+36G>A MANE Select | NP_001605.1:n.-7+36G>A | |
| NR_037688.3:n.66+36G>A | ||
| NM_001199954.3:c.-90G>A | NP_001186883.1:n.-90G>A |