Linked Data
ClinVar Variation Id:
132704
dbSNP Id:
rs376836050
ExAC:
17:41215871 A / T
gnomAD v2:
17-41215871-A-T
gnomAD v3:
17-43063854-A-T
gnomAD v4:
17-43063854-A-T
PubMed:
PMID:19563646
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063854A>T , CM000679.2:g.43063854A>T | GRCh38 |
| NC_000017.10:g.41215871A>T , CM000679.1:g.41215871A>T | GRCh37 |
| NC_000017.9:g.38469397A>T | NCBI36 |
| NG_005905.2:g.154130T>A , LRG_292:g.154130T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5149+20T>A | ENSP00000417241.2:n.5149+20T>A | |
| ENST00000470026.6:c.5152+20T>A | ENSP00000419274.2:n.5152+20T>A | |
| ENST00000473961.6:c.5026+20T>A | ENSP00000420201.2:n.5026+20T>A | |
| ENST00000476777.6:c.5146+20T>A | ENSP00000417554.2:n.5146+20T>A | |
| ENST00000477152.6:c.5074+20T>A | ENSP00000419988.2:n.5074+20T>A | |
| ENST00000478531.6:c.1840+20T>A | ENSP00000420412.2:n.1840+20T>A | |
| ENST00000489037.2:c.5074+20T>A | ENSP00000420781.2:n.5074+20T>A | |
| ENST00000493919.6:c.1702+20T>A | ENSP00000418819.2:n.1702+20T>A | |
| ENST00000494123.6:c.5152+20T>A | ENSP00000419103.2:n.5152+20T>A | |
| ENST00000497488.2:c.4264+20T>A | ENSP00000418986.2:n.4264+20T>A | |
| ENST00000618469.2:c.5152+20T>A | ENSP00000478114.2:n.5152+20T>A | |
| ENST00000634433.2:c.5029+20T>A | ENSP00000489431.2:n.5029+20T>A | |
| ENST00000644379.2:c.5218+20T>A | ENSP00000496570.2:n.5218+20T>A | |
| ENST00000644555.2:c.1702+20T>A | ENSP00000494614.2:n.1702+20T>A | |
| ENST00000652672.2:c.5011+20T>A | ENSP00000498906.2:n.5011+20T>A | |
| ENST00000484087.6:c.1714+20T>A | ENSP00000419481.2:n.1714+20T>A | |
| ENST00000357654.9:c.5152+20T>A MANE Select | ENSP00000350283.3:n.5152+20T>A | |
| ENST00000471181.7:c.5215+20T>A | ENSP00000418960.2:n.5215+20T>A | |
| ENST00000644379.1:c.1539+20T>A | ||
| ENST00000352993.7:c.1726+20T>A | ENSP00000312236.5:n.1726+20T>A | |
| ENST00000357654.7:c.5152+20T>A | ENSP00000350283.3:n.5152+20T>A | |
| ENST00000461221.5:c.*4935+20T>A | ENSP00000418548.1:n.*4935+20T>A | |
| ENST00000468300.5:c.1840+20T>A | ENSP00000417148.1:n.1840+20T>A | |
| ENST00000471181.6:c.5215+20T>A | ENSP00000418960.2:n.5215+20T>A | |
| ENST00000478531.5:c.1840+20T>A | ENSP00000420412.1:n.1840+20T>A | |
| ENST00000484087.5:c.1465+20T>A | ENSP00000419481.1:n.1465+20T>A | |
| ENST00000491747.6:c.1840+20T>A | ENSP00000420705.2:n.1840+20T>A | |
| ENST00000493795.5:c.5011+20T>A | ENSP00000418775.1:n.5011+20T>A | |
| ENST00000493919.5:c.1702+20T>A | ENSP00000418819.1:n.1702+20T>A | |
| ENST00000586385.5:c.82+20T>A | ENSP00000465818.1:n.82+20T>A | |
| ENST00000591534.5:c.625+20T>A | ENSP00000467329.1:n.625+20T>A | |
| ENST00000591849.5:c.-98-13664T>A | ENSP00000465347.1:n.-98-13664T>A | |
| NM_007294.3:c.5152+20T>A , LRG_292t1:c.5152+20T>A | NP_009225.1:n.5152+20T>A | |
| NM_007297.3:c.5011+20T>A | NP_009228.2:n.5011+20T>A | |
| NM_007298.3:c.1840+20T>A | NP_009229.2:n.1840+20T>A | |
| NM_007299.3:c.1840+20T>A | NP_009230.2:n.1840+20T>A | |
| NM_007300.3:c.5215+20T>A | NP_009231.2:n.5215+20T>A | |
| NR_027676.1:n.5288+20T>A | ||
| NM_007294.4:c.5152+20T>A MANE Select | NP_009225.1:n.5152+20T>A | |
| NM_007297.4:c.5011+20T>A | NP_009228.2:n.5011+20T>A | |
| NM_007299.4:c.1840+20T>A | NP_009230.2:n.1840+20T>A | |
| NM_007300.4:c.5215+20T>A | NP_009231.2:n.5215+20T>A | |
| NR_027676.2:n.5329+20T>A |