Linked Data
ClinVar Variation Id:
920277
ClinVar RCV Id:
RCV001178944
dbSNP Id:
rs2051106007
gnomAD v4:
17-43049309-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049309C>G , CM000679.2:g.43049309C>G | GRCh38 |
| NC_000017.10:g.41201326C>G , CM000679.1:g.41201326C>G | GRCh37 |
| NC_000017.9:g.38454852C>G | NCBI36 |
| NG_005905.2:g.168675G>C , LRG_292:g.168675G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5330-115G>C | ENSP00000417241.2:n.5330-115G>C | |
| ENST00000470026.6:c.5333-115G>C | ENSP00000419274.2:n.5333-115G>C | |
| ENST00000473961.6:c.5207-115G>C | ENSP00000420201.2:n.5207-115G>C | |
| ENST00000476777.6:c.5327-115G>C | ENSP00000417554.2:n.5327-115G>C | |
| ENST00000477152.6:c.5255-115G>C | ENSP00000419988.2:n.5255-115G>C | |
| ENST00000478531.6:c.2021-115G>C | ENSP00000420412.2:n.2021-115G>C | |
| ENST00000489037.2:c.5255-115G>C | ENSP00000420781.2:n.5255-115G>C | |
| ENST00000493919.6:c.1883-115G>C | ENSP00000418819.2:n.1883-115G>C | |
| ENST00000494123.6:c.5333-115G>C | ENSP00000419103.2:n.5333-115G>C | |
| ENST00000497488.2:c.4445-115G>C | ENSP00000418986.2:n.4445-115G>C | |
| ENST00000618469.2:c.5333-115G>C | ENSP00000478114.2:n.5333-115G>C | |
| ENST00000634433.2:c.5210-115G>C | ENSP00000489431.2:n.5210-115G>C | |
| ENST00000644379.2:c.5399-115G>C | ENSP00000496570.2:n.5399-115G>C | |
| ENST00000644555.2:c.1883-115G>C | ENSP00000494614.2:n.1883-115G>C | |
| ENST00000652672.2:c.5192-115G>C | ENSP00000498906.2:n.5192-115G>C | |
| ENST00000484087.6:c.1895-115G>C | ENSP00000419481.2:n.1895-115G>C | |
| ENST00000700081.1:n.1101G>C | ||
| ENST00000357654.9:c.5333-115G>C MANE Select | ENSP00000350283.3:n.5333-115G>C | |
| ENST00000471181.7:c.5396-115G>C | ENSP00000418960.2:n.5396-115G>C | |
| ENST00000644379.1:c.1720-115G>C | ||
| ENST00000352993.7:c.1907-115G>C | ENSP00000312236.5:n.1907-115G>C | |
| ENST00000357654.7:c.5333-115G>C | ENSP00000350283.3:n.5333-115G>C | |
| ENST00000461221.5:c.*5116-115G>C | ENSP00000418548.1:n.*5116-115G>C | |
| ENST00000468300.5:c.2021-1606G>C | ENSP00000417148.1:n.2021-1606G>C | |
| ENST00000471181.6:c.5396-115G>C | ENSP00000418960.2:n.5396-115G>C | |
| ENST00000491747.6:c.2021-115G>C | ENSP00000420705.2:n.2021-115G>C | |
| ENST00000493795.5:c.5192-115G>C | ENSP00000418775.1:n.5192-115G>C | |
| ENST00000586385.5:c.263-115G>C | ENSP00000465818.1:n.263-115G>C | |
| ENST00000591534.5:c.806-115G>C | ENSP00000467329.1:n.806-115G>C | |
| ENST00000591849.5:c.32-115G>C | ENSP00000465347.1:n.32-115G>C | |
| NM_007294.3:c.5333-115G>C , LRG_292t1:c.5333-115G>C | NP_009225.1:n.5333-115G>C | |
| NM_007297.3:c.5192-115G>C | NP_009228.2:n.5192-115G>C | |
| NM_007298.3:c.2021-115G>C | NP_009229.2:n.2021-115G>C | |
| NM_007299.3:c.2021-1606G>C | NP_009230.2:n.2021-1606G>C | |
| NM_007300.3:c.5396-115G>C | NP_009231.2:n.5396-115G>C | |
| NR_027676.1:n.5469-115G>C | ||
| NM_007294.4:c.5333-115G>C MANE Select | NP_009225.1:n.5333-115G>C | |
| NM_007297.4:c.5192-115G>C | NP_009228.2:n.5192-115G>C | |
| NM_007299.4:c.2021-1606G>C | NP_009230.2:n.2021-1606G>C | |
| NM_007300.4:c.5396-115G>C | NP_009231.2:n.5396-115G>C | |
| NR_027676.2:n.5510-115G>C |