Linked Data
ClinVar Variation Id:
462638
dbSNP Id:
rs766330646
ExAC:
17:41242956 T / C
gnomAD v2:
17-41242956-T-C
gnomAD v4:
17-43090939-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43090939T>C , CM000679.2:g.43090939T>C | GRCh38 |
| NC_000017.10:g.41242956T>C , CM000679.1:g.41242956T>C | GRCh37 |
| NC_000017.9:g.38496482T>C | NCBI36 |
| NG_005905.2:g.127045A>G , LRG_292:g.127045A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4185+5A>G | ENSP00000417241.2:n.4185+5A>G | |
| ENST00000470026.6:c.4185+5A>G | ENSP00000419274.2:n.4185+5A>G | |
| ENST00000473961.6:c.4059+5A>G | ENSP00000420201.2:n.4059+5A>G | |
| ENST00000476777.6:c.4182+5A>G | ENSP00000417554.2:n.4182+5A>G | |
| ENST00000477152.6:c.4107+5A>G | ENSP00000419988.2:n.4107+5A>G | |
| ENST00000478531.6:c.873+5A>G | ENSP00000420412.2:n.873+5A>G | |
| ENST00000489037.2:c.4107+5A>G | ENSP00000420781.2:n.4107+5A>G | |
| ENST00000493919.6:c.735+5A>G | ENSP00000418819.2:n.735+5A>G | |
| ENST00000494123.6:c.4185+5A>G | ENSP00000419103.2:n.4185+5A>G | |
| ENST00000497488.2:c.3297+5A>G | ENSP00000418986.2:n.3297+5A>G | |
| ENST00000618469.2:c.4185+5A>G | ENSP00000478114.2:n.4185+5A>G | |
| ENST00000634433.2:c.4062+5A>G | ENSP00000489431.2:n.4062+5A>G | |
| ENST00000644379.2:c.4185+5A>G | ENSP00000496570.2:n.4185+5A>G | |
| ENST00000644555.2:c.735+5A>G | ENSP00000494614.2:n.735+5A>G | |
| ENST00000652672.2:c.4044+5A>G | ENSP00000498906.2:n.4044+5A>G | |
| ENST00000484087.6:c.753+5A>G | ENSP00000419481.2:n.753+5A>G | |
| ENST00000700182.1:c.795+5A>G | ENSP00000514849.1:n.795+5A>G | |
| ENST00000357654.9:c.4185+5A>G MANE Select | ENSP00000350283.3:n.4185+5A>G | |
| ENST00000471181.7:c.4185+5A>G | ENSP00000418960.2:n.4185+5A>G | |
| ENST00000644379.1:c.506+5A>G | ||
| ENST00000352993.7:c.759+5A>G | ENSP00000312236.5:n.759+5A>G | |
| ENST00000357654.7:c.4185+5A>G | ENSP00000350283.3:n.4185+5A>G | |
| ENST00000461221.5:c.*3968+5A>G | ENSP00000418548.1:n.*3968+5A>G | |
| ENST00000461574.1:c.479+5A>G | ||
| ENST00000468300.5:c.876+5A>G | ENSP00000417148.1:n.876+5A>G | |
| ENST00000471181.6:c.4185+5A>G | ENSP00000418960.2:n.4185+5A>G | |
| ENST00000478531.5:c.873+5A>G | ENSP00000420412.1:n.873+5A>G | |
| ENST00000484087.5:c.498+5A>G | ENSP00000419481.1:n.498+5A>G | |
| ENST00000487825.5:c.501+5A>G | ENSP00000418212.1:n.501+5A>G | |
| ENST00000491747.6:c.876+5A>G | ENSP00000420705.2:n.876+5A>G | |
| ENST00000493795.5:c.4044+5A>G | ENSP00000418775.1:n.4044+5A>G | |
| ENST00000493919.5:c.735+5A>G | ENSP00000418819.1:n.735+5A>G | |
| ENST00000586385.5:c.5-26988A>G | ENSP00000465818.1:n.5-26988A>G | |
| ENST00000591534.5:c.-43-16418A>G | ENSP00000467329.1:n.-43-16418A>G | |
| ENST00000591849.5:c.-99+34332A>G | ENSP00000465347.1:n.-99+34332A>G | |
| NM_007294.3:c.4185+5A>G , LRG_292t1:c.4185+5A>G | NP_009225.1:n.4185+5A>G | |
| NM_007297.3:c.4044+5A>G | NP_009228.2:n.4044+5A>G | |
| NM_007298.3:c.876+5A>G | NP_009229.2:n.876+5A>G | |
| NM_007299.3:c.876+5A>G | NP_009230.2:n.876+5A>G | |
| NM_007300.3:c.4185+5A>G | NP_009231.2:n.4185+5A>G | |
| NR_027676.1:n.4321+5A>G | ||
| NM_007294.4:c.4185+5A>G MANE Select | NP_009225.1:n.4185+5A>G | |
| NM_007297.4:c.4044+5A>G | NP_009228.2:n.4044+5A>G | |
| NM_007299.4:c.876+5A>G | NP_009230.2:n.876+5A>G | |
| NM_007300.4:c.4185+5A>G | NP_009231.2:n.4185+5A>G | |
| NR_027676.2:n.4362+5A>G |