Linked Data
ClinVar Variation Id:
55208
dbSNP Id:
rs80357148
ExAC:
17:41228509 C / T
gnomAD v2:
17-41228509-C-T
gnomAD v3:
17-43076492-C-T
gnomAD v4:
17-43076492-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43076492C>T , CM000679.2:g.43076492C>T | GRCh38 |
| NC_000017.10:g.41228509C>T , CM000679.1:g.41228509C>T | GRCh37 |
| NC_000017.9:g.38482035C>T | NCBI36 |
| NG_005905.2:g.141492G>A , LRG_292:g.141492G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4477G>A | ENSP00000417241.2:p.Glu1493Lys | |
| ENST00000470026.6:c.4480G>A | ENSP00000419274.2:p.Glu1494Lys | |
| ENST00000473961.6:c.4354G>A | ENSP00000420201.2:p.Glu1452Lys | |
| ENST00000476777.6:c.4474G>A | ENSP00000417554.2:p.Glu1492Lys | |
| ENST00000477152.6:c.4402G>A | ENSP00000419988.2:p.Glu1468Lys | |
| ENST00000478531.6:c.1168G>A | ENSP00000420412.2:p.Glu390Lys | |
| ENST00000489037.2:c.4402G>A | ENSP00000420781.2:p.Glu1468Lys | |
| ENST00000493919.6:c.1030G>A | ENSP00000418819.2:p.Glu344Lys | |
| ENST00000494123.6:c.4480G>A | ENSP00000419103.2:p.Glu1494Lys | |
| ENST00000497488.2:c.3592G>A | ENSP00000418986.2:p.Glu1198Lys | |
| ENST00000618469.2:c.4480G>A | ENSP00000478114.2:p.Glu1494Lys | |
| ENST00000634433.2:c.4357G>A | ENSP00000489431.2:p.Glu1453Lys | |
| ENST00000644379.2:c.4546G>A | ENSP00000496570.2:p.Glu1516Lys | |
| ENST00000644555.2:c.1030G>A | ENSP00000494614.2:p.Glu344Lys | |
| ENST00000652672.2:c.4339G>A | ENSP00000498906.2:p.Glu1447Lys | |
| ENST00000484087.6:c.1042G>A | ENSP00000419481.2:p.Glu348Lys | |
| ENST00000700182.1:c.1087G>A | ENSP00000514849.1:p.Glu363Lys | |
| ENST00000357654.9:c.4480G>A MANE Select | ENSP00000350283.3:p.Glu1494Lys | |
| ENST00000471181.7:c.4543G>A | ENSP00000418960.2:p.Glu1515Lys | |
| ENST00000644379.1:c.867G>A | ||
| ENST00000352993.7:c.1054G>A | ENSP00000312236.5:p.Glu352Lys | |
| ENST00000357654.7:c.4480G>A | ENSP00000350283.3:p.Glu1494Lys | |
| ENST00000461221.5:c.*4263G>A | ENSP00000418548.1:n.*4263G>A | |
| ENST00000468300.5:c.1168G>A | ENSP00000417148.1:p.Glu390Lys | |
| ENST00000471181.6:c.4543G>A | ENSP00000418960.2:p.Glu1515Lys | |
| ENST00000478531.5:c.1168G>A | ENSP00000420412.1:p.Glu390Lys | |
| ENST00000484087.5:c.793G>A | ENSP00000419481.1:p.Glu265Lys | |
| ENST00000487825.5:c.796G>A | ENSP00000418212.1:p.Glu266Lys | |
| ENST00000491747.6:c.1168G>A | ENSP00000420705.2:p.Glu390Lys | |
| ENST00000493795.5:c.4339G>A | ENSP00000418775.1:p.Glu1447Lys | |
| ENST00000493919.5:c.1030G>A | ENSP00000418819.1:p.Glu344Lys | |
| ENST00000586385.5:c.5-12541G>A | ENSP00000465818.1:n.5-12541G>A | |
| ENST00000591534.5:c.-43-1971G>A | ENSP00000467329.1:n.-43-1971G>A | |
| ENST00000591849.5:c.-98-26302G>A | ENSP00000465347.1:n.-98-26302G>A | |
| ENST00000621897.1:n.371G>A | ||
| NM_007294.3:c.4480G>A , LRG_292t1:c.4480G>A | NP_009225.1:p.Glu1494Lys | |
| NM_007297.3:c.4339G>A | NP_009228.2:p.Glu1447Lys | |
| NM_007298.3:c.1168G>A | NP_009229.2:p.Glu390Lys | |
| NM_007299.3:c.1168G>A | NP_009230.2:p.Glu390Lys | |
| NM_007300.3:c.4543G>A | NP_009231.2:p.Glu1515Lys | |
| NR_027676.1:n.4616G>A | ||
| NM_007294.4:c.4480G>A MANE Select | NP_009225.1:p.Glu1494Lys | |
| NM_007297.4:c.4339G>A | NP_009228.2:p.Glu1447Lys | |
| NM_007299.4:c.1168G>A | NP_009230.2:p.Glu390Lys | |
| NM_007300.4:c.4543G>A | NP_009231.2:p.Glu1515Lys | |
| NR_027676.2:n.4657G>A |