Linked Data
ClinVar Variation Id:
125827
dbSNP Id:
rs80358166
ExAC:
17:41203076 T / C
gnomAD v2:
17-41203076-T-C
gnomAD v4:
17-43051059-T-C
PubMed:
PMID:22762150
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43051059T>C , CM000679.2:g.43051059T>C | GRCh38 |
| NC_000017.10:g.41203076T>C , CM000679.1:g.41203076T>C | GRCh37 |
| NC_000017.9:g.38456602T>C | NCBI36 |
| NG_005905.2:g.166925A>G , LRG_292:g.166925A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5329+4A>G | ENSP00000417241.2:n.5329+4A>G | |
| ENST00000470026.6:c.5332+4A>G | ENSP00000419274.2:n.5332+4A>G | |
| ENST00000473961.6:c.5206+4A>G | ENSP00000420201.2:n.5206+4A>G | |
| ENST00000476777.6:c.5326+4A>G | ENSP00000417554.2:n.5326+4A>G | |
| ENST00000477152.6:c.5254+4A>G | ENSP00000419988.2:n.5254+4A>G | |
| ENST00000478531.6:c.2020+4A>G | ENSP00000420412.2:n.2020+4A>G | |
| ENST00000489037.2:c.5254+4A>G | ENSP00000420781.2:n.5254+4A>G | |
| ENST00000493919.6:c.1882+4A>G | ENSP00000418819.2:n.1882+4A>G | |
| ENST00000494123.6:c.5332+4A>G | ENSP00000419103.2:n.5332+4A>G | |
| ENST00000497488.2:c.4444+4A>G | ENSP00000418986.2:n.4444+4A>G | |
| ENST00000618469.2:c.5332+4A>G | ENSP00000478114.2:n.5332+4A>G | |
| ENST00000634433.2:c.5209+4A>G | ENSP00000489431.2:n.5209+4A>G | |
| ENST00000644379.2:c.5398+4A>G | ENSP00000496570.2:n.5398+4A>G | |
| ENST00000644555.2:c.1882+4A>G | ENSP00000494614.2:n.1882+4A>G | |
| ENST00000652672.2:c.5191+4A>G | ENSP00000498906.2:n.5191+4A>G | |
| ENST00000484087.6:c.1894+4A>G | ENSP00000419481.2:n.1894+4A>G | |
| ENST00000357654.9:c.5332+4A>G MANE Select | ENSP00000350283.3:n.5332+4A>G | |
| ENST00000471181.7:c.5395+4A>G | ENSP00000418960.2:n.5395+4A>G | |
| ENST00000644379.1:c.1719+4A>G | ||
| ENST00000352993.7:c.1906+4A>G | ENSP00000312236.5:n.1906+4A>G | |
| ENST00000357654.7:c.5332+4A>G | ENSP00000350283.3:n.5332+4A>G | |
| ENST00000461221.5:c.*5115+4A>G | ENSP00000418548.1:n.*5115+4A>G | |
| ENST00000468300.5:c.2020+4A>G | ENSP00000417148.1:n.2020+4A>G | |
| ENST00000471181.6:c.5395+4A>G | ENSP00000418960.2:n.5395+4A>G | |
| ENST00000491747.6:c.2020+4A>G | ENSP00000420705.2:n.2020+4A>G | |
| ENST00000493795.5:c.5191+4A>G | ENSP00000418775.1:n.5191+4A>G | |
| ENST00000586385.5:c.262+4A>G | ENSP00000465818.1:n.262+4A>G | |
| ENST00000591534.5:c.805+4A>G | ENSP00000467329.1:n.805+4A>G | |
| ENST00000591849.5:c.-98-869A>G | ENSP00000465347.1:n.-98-869A>G | |
| NM_007294.3:c.5332+4A>G , LRG_292t1:c.5332+4A>G | NP_009225.1:n.5332+4A>G | |
| NM_007297.3:c.5191+4A>G | NP_009228.2:n.5191+4A>G | |
| NM_007298.3:c.2020+4A>G | NP_009229.2:n.2020+4A>G | |
| NM_007299.3:c.2020+4A>G | NP_009230.2:n.2020+4A>G | |
| NM_007300.3:c.5395+4A>G | NP_009231.2:n.5395+4A>G | |
| NR_027676.1:n.5468+4A>G | ||
| NM_007294.4:c.5332+4A>G MANE Select | NP_009225.1:n.5332+4A>G | |
| NM_007297.4:c.5191+4A>G | NP_009228.2:n.5191+4A>G | |
| NM_007299.4:c.2020+4A>G | NP_009230.2:n.2020+4A>G | |
| NM_007300.4:c.5395+4A>G | NP_009231.2:n.5395+4A>G | |
| NR_027676.2:n.5509+4A>G |