Linked Data
ClinVar Variation Id:
865704
ClinVar RCV Id:
RCV001073173
dbSNP Id:
rs531210457
gnomAD v4:
17-43049125-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049125C>A , CM000679.2:g.43049125C>A | GRCh38 |
| NC_000017.10:g.41201142C>A , CM000679.1:g.41201142C>A | GRCh37 |
| NC_000017.9:g.38454668C>A | NCBI36 |
| NG_005905.2:g.168859G>T , LRG_292:g.168859G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5399G>T | ENSP00000417241.2:p.Gly1800Val | |
| ENST00000470026.6:c.5402G>T | ENSP00000419274.2:p.Gly1801Val | |
| ENST00000473961.6:c.5276G>T | ENSP00000420201.2:p.Gly1759Val | |
| ENST00000476777.6:c.5396G>T | ENSP00000417554.2:p.Gly1799Val | |
| ENST00000477152.6:c.5324G>T | ENSP00000419988.2:p.Gly1775Val | |
| ENST00000478531.6:c.2090G>T | ENSP00000420412.2:p.Gly697Val | |
| ENST00000489037.2:c.5324G>T | ENSP00000420781.2:p.Gly1775Val | |
| ENST00000493919.6:c.1952G>T | ENSP00000418819.2:p.Gly651Val | |
| ENST00000494123.6:c.5402G>T | ENSP00000419103.2:p.Gly1801Val | |
| ENST00000497488.2:c.4514G>T | ENSP00000418986.2:p.Gly1505Val | |
| ENST00000618469.2:c.5402G>T | ENSP00000478114.2:p.Gly1801Val | |
| ENST00000634433.2:c.5279G>T | ENSP00000489431.2:p.Gly1760Val | |
| ENST00000644379.2:c.5468G>T | ENSP00000496570.2:p.Gly1823Val | |
| ENST00000644555.2:c.1952G>T | ENSP00000494614.2:p.Gly651Val | |
| ENST00000652672.2:c.5261G>T | ENSP00000498906.2:p.Gly1754Val | |
| ENST00000484087.6:c.1964G>T | ENSP00000419481.2:p.Gly655Val | |
| ENST00000700081.1:n.1285G>T | ||
| ENST00000357654.9:c.5402G>T MANE Select | ENSP00000350283.3:p.Gly1801Val | |
| ENST00000471181.7:c.5465G>T | ENSP00000418960.2:p.Gly1822Val | |
| ENST00000644379.1:c.1789G>T | ||
| ENST00000352993.7:c.1976G>T | ENSP00000312236.5:p.Gly659Val | |
| ENST00000357654.7:c.5402G>T | ENSP00000350283.3:p.Gly1801Val | |
| ENST00000461221.5:c.*5185G>T | ENSP00000418548.1:n.*5185G>T | |
| ENST00000468300.5:c.2021-1422G>T | ENSP00000417148.1:n.2021-1422G>T | |
| ENST00000471181.6:c.5465G>T | ENSP00000418960.2:p.Gly1822Val | |
| ENST00000491747.6:c.2090G>T | ENSP00000420705.2:p.Gly697Val | |
| ENST00000493795.5:c.5261G>T | ENSP00000418775.1:p.Gly1754Val | |
| ENST00000586385.5:c.332G>T | ENSP00000465818.1:p.Gly111Val | |
| ENST00000591534.5:c.875G>T | ENSP00000467329.1:p.Gly292Val | |
| ENST00000591849.5:c.101G>T | ENSP00000465347.1:p.Gly34Val | |
| NM_007294.3:c.5402G>T , LRG_292t1:c.5402G>T | NP_009225.1:p.Gly1801Val | |
| NM_007297.3:c.5261G>T | NP_009228.2:p.Gly1754Val | |
| NM_007298.3:c.2090G>T | NP_009229.2:p.Gly697Val | |
| NM_007299.3:c.2021-1422G>T | NP_009230.2:n.2021-1422G>T | |
| NM_007300.3:c.5465G>T | NP_009231.2:p.Gly1822Val | |
| NR_027676.1:n.5538G>T | ||
| NM_007294.4:c.5402G>T MANE Select | NP_009225.1:p.Gly1801Val | |
| NM_007297.4:c.5261G>T | NP_009228.2:p.Gly1754Val | |
| NM_007299.4:c.2021-1422G>T | NP_009230.2:n.2021-1422G>T | |
| NM_007300.4:c.5465G>T | NP_009231.2:p.Gly1822Val | |
| NR_027676.2:n.5579G>T |