Linked Data
ClinVar Variation Id:
37673
dbSNP Id:
rs80358145
gnomAD v2:
17-41199659-C-T
gnomAD v3:
17-43047642-C-T
gnomAD v4:
17-43047642-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43047642C>T , CM000679.2:g.43047642C>T | GRCh38 |
| NC_000017.10:g.41199659C>T , CM000679.1:g.41199659C>T | GRCh37 |
| NC_000017.9:g.38453185C>T | NCBI36 |
| NG_005905.2:g.170342G>A , LRG_292:g.170342G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5464+1G>A | ENSP00000417241.2:n.5464+1G>A | |
| ENST00000470026.6:c.5467+1G>A | ENSP00000419274.2:n.5467+1G>A | |
| ENST00000473961.6:c.5341+1G>A | ENSP00000420201.2:n.5341+1G>A | |
| ENST00000476777.6:c.5461+1G>A | ENSP00000417554.2:n.5461+1G>A | |
| ENST00000477152.6:c.5389+1G>A | ENSP00000419988.2:n.5389+1G>A | |
| ENST00000478531.6:c.2155+1G>A | ENSP00000420412.2:n.2155+1G>A | |
| ENST00000489037.2:c.5389+1G>A | ENSP00000420781.2:n.5389+1G>A | |
| ENST00000493919.6:c.2017+1G>A | ENSP00000418819.2:n.2017+1G>A | |
| ENST00000494123.6:c.5467+1G>A | ENSP00000419103.2:n.5467+1G>A | |
| ENST00000497488.2:c.4579+1G>A | ENSP00000418986.2:n.4579+1G>A | |
| ENST00000618469.2:c.5467+1G>A | ENSP00000478114.2:n.5467+1G>A | |
| ENST00000634433.2:c.5344+1G>A | ENSP00000489431.2:n.5344+1G>A | |
| ENST00000644379.2:c.5533+1G>A | ENSP00000496570.2:n.5533+1G>A | |
| ENST00000644555.2:c.2017+1G>A | ENSP00000494614.2:n.2017+1G>A | |
| ENST00000652672.2:c.5326+1G>A | ENSP00000498906.2:n.5326+1G>A | |
| ENST00000484087.6:c.2029+1G>A | ENSP00000419481.2:n.2029+1G>A | |
| ENST00000700081.1:n.1350+1G>A | ||
| ENST00000700082.1:n.831+1G>A | ||
| ENST00000357654.9:c.5467+1G>A MANE Select | ENSP00000350283.3:n.5467+1G>A | |
| ENST00000471181.7:c.5530+1G>A | ENSP00000418960.2:n.5530+1G>A | |
| ENST00000644379.1:c.1854+1G>A | ||
| ENST00000352993.7:c.2041+1G>A | ENSP00000312236.5:n.2041+1G>A | |
| ENST00000357654.7:c.5467+1G>A | ENSP00000350283.3:n.5467+1G>A | |
| ENST00000461221.5:c.*5250+1G>A | ENSP00000418548.1:n.*5250+1G>A | |
| ENST00000468300.5:c.2081+1G>A | ENSP00000417148.1:n.2081+1G>A | |
| ENST00000471181.6:c.5530+1G>A | ENSP00000418960.2:n.5530+1G>A | |
| ENST00000491747.6:c.2155+1G>A | ENSP00000420705.2:n.2155+1G>A | |
| ENST00000493795.5:c.5326+1G>A | ENSP00000418775.1:n.5326+1G>A | |
| ENST00000586385.5:c.397+1G>A | ENSP00000465818.1:n.397+1G>A | |
| ENST00000591534.5:c.940+1G>A | ENSP00000467329.1:n.940+1G>A | |
| ENST00000591849.5:c.166+1G>A | ENSP00000465347.1:n.166+1G>A | |
| NM_007294.3:c.5467+1G>A , LRG_292t1:c.5467+1G>A | NP_009225.1:n.5467+1G>A | |
| NM_007297.3:c.5326+1G>A | NP_009228.2:n.5326+1G>A | |
| NM_007298.3:c.2155+1G>A | NP_009229.2:n.2155+1G>A | |
| NM_007299.3:c.2081+1G>A | NP_009230.2:n.2081+1G>A | |
| NM_007300.3:c.5530+1G>A | NP_009231.2:n.5530+1G>A | |
| NR_027676.1:n.5603+1G>A | ||
| NM_007294.4:c.5467+1G>A MANE Select | NP_009225.1:n.5467+1G>A | |
| NM_007297.4:c.5326+1G>A | NP_009228.2:n.5326+1G>A | |
| NM_007299.4:c.2081+1G>A | NP_009230.2:n.2081+1G>A | |
| NM_007300.4:c.5530+1G>A | NP_009231.2:n.5530+1G>A | |
| NR_027676.2:n.5644+1G>A |