Linked Data
ClinVar Variation Id:
125464
dbSNP Id:
rs273898672
gnomAD v2:
17-41277277-G-A
gnomAD v3:
17-43125260-G-A
gnomAD v4:
17-43125260-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43125260G>A , CM000679.2:g.43125260G>A | GRCh38 |
| NC_000017.10:g.41277277G>A , CM000679.1:g.41277277G>A | GRCh37 |
| NC_000017.9:g.38530803G>A | NCBI36 |
| NG_005905.2:g.92724C>T , LRG_292:g.92724C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.45+11C>T | ||
| ENST00000461574.2:c.-20+11C>T | ENSP00000417241.2:n.-20+11C>T | |
| ENST00000470026.6:c.-98C>T | ENSP00000419274.2:n.-98C>T | |
| ENST00000473961.6:c.-20+11C>T | ENSP00000420201.2:n.-20+11C>T | |
| ENST00000476777.6:c.-20+11C>T | ENSP00000417554.2:n.-20+11C>T | |
| ENST00000477152.6:c.-20+11C>T | ENSP00000419988.2:n.-20+11C>T | |
| ENST00000478531.6:c.-20+17C>T | ENSP00000420412.2:n.-20+17C>T | |
| ENST00000489037.2:c.-98C>T | ENSP00000420781.2:n.-98C>T | |
| ENST00000493919.6:c.-107+17C>T | ENSP00000418819.2:n.-107+17C>T | |
| ENST00000494123.6:c.-20+17C>T | ENSP00000419103.2:n.-20+17C>T | |
| ENST00000497488.2:c.-219+11C>T | ENSP00000418986.2:n.-219+11C>T | |
| ENST00000618469.2:c.-543C>T | ENSP00000478114.2:n.-543C>T | |
| ENST00000634433.2:c.-19-1145C>T | ENSP00000489431.2:n.-19-1145C>T | |
| ENST00000644379.2:c.-20+11C>T | ENSP00000496570.2:n.-20+11C>T | |
| ENST00000644555.2:c.-306+11C>T | ENSP00000494614.2:n.-306+11C>T | |
| ENST00000652672.2:c.-280+17C>T | ENSP00000498906.2:n.-280+17C>T | |
| ENST00000484087.6:c.-20+11C>T | ENSP00000419481.2:n.-20+11C>T | |
| ENST00000700182.1:c.-20+11C>T | ENSP00000514849.1:n.-20+11C>T | |
| ENST00000700183.1:c.-20+11C>T | ENSP00000514850.1:n.-20+11C>T | |
| ENST00000700185.1:n.100+11C>T | ||
| ENST00000700186.1:n.100+11C>T | ||
| ENST00000357654.9:c.-20+11C>T MANE Select | ENSP00000350283.3:n.-20+11C>T | |
| ENST00000471181.7:c.-20+11C>T | ENSP00000418960.2:n.-20+11C>T | |
| ENST00000642945.1:c.-20+17C>T | ENSP00000495897.1:n.-20+17C>T | |
| ENST00000644555.1:c.-306+11C>T | ENSP00000494614.1:n.-306+11C>T | |
| ENST00000652672.1:c.-280+17C>T | ENSP00000498906.1:n.-280+17C>T | |
| ENST00000352993.7:c.-20+11C>T | ENSP00000312236.5:n.-20+11C>T | |
| ENST00000354071.7:c.-20+11C>T | ENSP00000326002.7:n.-20+11C>T | |
| ENST00000357654.7:c.-20+11C>T | ENSP00000350283.3:n.-20+11C>T | |
| ENST00000461221.5:c.-98C>T | ENSP00000418548.1:n.-98C>T | |
| ENST00000461798.5:c.-20+17C>T | ENSP00000417988.1:n.-20+17C>T | |
| ENST00000468300.5:c.-20+17C>T | ENSP00000417148.1:n.-20+17C>T | |
| ENST00000470026.5:c.-98C>T | ENSP00000419274.1:n.-98C>T | |
| ENST00000471181.6:c.-20+11C>T | ENSP00000418960.2:n.-20+11C>T | |
| ENST00000476777.5:c.-20+11C>T | ENSP00000417554.1:n.-20+11C>T | |
| ENST00000477152.5:c.-20+11C>T | ENSP00000419988.1:n.-20+11C>T | |
| ENST00000478531.5:c.-20+17C>T | ENSP00000420412.1:n.-20+17C>T | |
| ENST00000489037.1:c.-98C>T | ENSP00000420781.1:n.-98C>T | |
| ENST00000491747.6:c.-20+17C>T | ENSP00000420705.2:n.-20+17C>T | |
| ENST00000492859.5:c.-20+11C>T | ENSP00000420253.1:n.-20+11C>T | |
| ENST00000493795.5:c.-107+17C>T | ENSP00000418775.1:n.-107+17C>T | |
| ENST00000493919.5:c.-107+17C>T | ENSP00000418819.1:n.-107+17C>T | |
| ENST00000494123.5:c.-20+17C>T | ENSP00000419103.1:n.-20+17C>T | |
| ENST00000497488.1:c.-219+11C>T | ENSP00000418986.1:n.-219+11C>T | |
| ENST00000586385.5:c.-75C>T | ENSP00000465818.1:n.-75C>T | |
| ENST00000591534.5:c.-44+11C>T | ENSP00000467329.1:n.-44+11C>T | |
| ENST00000591849.5:c.-99+11C>T | ENSP00000465347.1:n.-99+11C>T | |
| ENST00000618469.1:c.-543C>T | ENSP00000478114.1:n.-543C>T | |
| ENST00000634433.1:c.-19-1145C>T | ENSP00000489431.1:n.-19-1145C>T | |
| NM_007294.3:c.-20+11C>T , LRG_292t1:c.-20+11C>T | NP_009225.1:n.-20+11C>T | |
| NM_007297.3:c.-107+17C>T | NP_009228.2:n.-107+17C>T | |
| NM_007299.3:c.-20+17C>T | NP_009230.2:n.-20+17C>T | |
| NM_007300.3:c.-20+11C>T | NP_009231.2:n.-20+11C>T | |
| NR_027676.1:n.64C>T | ||
| NM_007294.4:c.-20+11C>T MANE Select | NP_009225.1:n.-20+11C>T | |
| NM_007297.4:c.-107+17C>T | NP_009228.2:n.-107+17C>T | |
| NM_007299.4:c.-20+17C>T | NP_009230.2:n.-20+17C>T | |
| NM_007300.4:c.-20+11C>T | NP_009231.2:n.-20+11C>T | |
| NR_027676.2:n.105C>T |