Linked Data
ClinVar Variation Id:
55342
dbSNP Id:
rs80358087
ExAC:
17:41222941 T / A
gnomAD v4:
17-43070924-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43070924T>A , CM000679.2:g.43070924T>A | GRCh38 |
| NC_000017.10:g.41222941T>A , CM000679.1:g.41222941T>A | GRCh37 |
| NC_000017.9:g.38476467T>A | NCBI36 |
| NG_005905.2:g.147060A>T , LRG_292:g.147060A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4983+4A>T | ENSP00000417241.2:n.4983+4A>T | |
| ENST00000470026.6:c.4986+4A>T | ENSP00000419274.2:n.4986+4A>T | |
| ENST00000473961.6:c.4860+4A>T | ENSP00000420201.2:n.4860+4A>T | |
| ENST00000476777.6:c.4980+4A>T | ENSP00000417554.2:n.4980+4A>T | |
| ENST00000477152.6:c.4908+4A>T | ENSP00000419988.2:n.4908+4A>T | |
| ENST00000478531.6:c.1674+4A>T | ENSP00000420412.2:n.1674+4A>T | |
| ENST00000489037.2:c.4908+4A>T | ENSP00000420781.2:n.4908+4A>T | |
| ENST00000493919.6:c.1536+4A>T | ENSP00000418819.2:n.1536+4A>T | |
| ENST00000494123.6:c.4986+4A>T | ENSP00000419103.2:n.4986+4A>T | |
| ENST00000497488.2:c.4098+4A>T | ENSP00000418986.2:n.4098+4A>T | |
| ENST00000618469.2:c.4986+4A>T | ENSP00000478114.2:n.4986+4A>T | |
| ENST00000634433.2:c.4863+4A>T | ENSP00000489431.2:n.4863+4A>T | |
| ENST00000644379.2:c.5052+4A>T | ENSP00000496570.2:n.5052+4A>T | |
| ENST00000644555.2:c.1536+4A>T | ENSP00000494614.2:n.1536+4A>T | |
| ENST00000652672.2:c.4845+4A>T | ENSP00000498906.2:n.4845+4A>T | |
| ENST00000484087.6:c.1548+4A>T | ENSP00000419481.2:n.1548+4A>T | |
| ENST00000700182.1:c.1597A>T | ENSP00000514849.1:p.Ser533Cys | |
| ENST00000357654.9:c.4986+4A>T MANE Select | ENSP00000350283.3:n.4986+4A>T | |
| ENST00000471181.7:c.5049+4A>T | ENSP00000418960.2:n.5049+4A>T | |
| ENST00000644379.1:c.1373+4A>T | ||
| ENST00000352993.7:c.1560+4A>T | ENSP00000312236.5:n.1560+4A>T | |
| ENST00000357654.7:c.4986+4A>T | ENSP00000350283.3:n.4986+4A>T | |
| ENST00000461221.5:c.*4769+4A>T | ENSP00000418548.1:n.*4769+4A>T | |
| ENST00000468300.5:c.1674+4A>T | ENSP00000417148.1:n.1674+4A>T | |
| ENST00000471181.6:c.5049+4A>T | ENSP00000418960.2:n.5049+4A>T | |
| ENST00000472490.1:n.139+4A>T | ||
| ENST00000478531.5:c.1674+4A>T | ENSP00000420412.1:n.1674+4A>T | |
| ENST00000484087.5:c.1299+4A>T | ENSP00000419481.1:n.1299+4A>T | |
| ENST00000491747.6:c.1674+4A>T | ENSP00000420705.2:n.1674+4A>T | |
| ENST00000493795.5:c.4845+4A>T | ENSP00000418775.1:n.4845+4A>T | |
| ENST00000493919.5:c.1536+4A>T | ENSP00000418819.1:n.1536+4A>T | |
| ENST00000586385.5:c.5-6973A>T | ENSP00000465818.1:n.5-6973A>T | |
| ENST00000591534.5:c.459+4A>T | ENSP00000467329.1:n.459+4A>T | |
| ENST00000591849.5:c.-98-20734A>T | ENSP00000465347.1:n.-98-20734A>T | |
| NM_007294.3:c.4986+4A>T , LRG_292t1:c.4986+4A>T | NP_009225.1:n.4986+4A>T | |
| NM_007297.3:c.4845+4A>T | NP_009228.2:n.4845+4A>T | |
| NM_007298.3:c.1674+4A>T | NP_009229.2:n.1674+4A>T | |
| NM_007299.3:c.1674+4A>T | NP_009230.2:n.1674+4A>T | |
| NM_007300.3:c.5049+4A>T | NP_009231.2:n.5049+4A>T | |
| NR_027676.1:n.5122+4A>T | ||
| NM_007294.4:c.4986+4A>T MANE Select | NP_009225.1:n.4986+4A>T | |
| NM_007297.4:c.4845+4A>T | NP_009228.2:n.4845+4A>T | |
| NM_007299.4:c.1674+4A>T | NP_009230.2:n.1674+4A>T | |
| NM_007300.4:c.5049+4A>T | NP_009231.2:n.5049+4A>T | |
| NR_027676.2:n.5163+4A>T |