Linked Data
ClinVar Variation Id:
142834
dbSNP Id:
rs531210457
ExAC:
17:41201142 C / T
gnomAD v2:
17-41201142-C-T
gnomAD v3:
17-43049125-C-T
gnomAD v4:
17-43049125-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049125C>T , CM000679.2:g.43049125C>T | GRCh38 |
| NC_000017.10:g.41201142C>T , CM000679.1:g.41201142C>T | GRCh37 |
| NC_000017.9:g.38454668C>T | NCBI36 |
| NG_005905.2:g.168859G>A , LRG_292:g.168859G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5399G>A | ENSP00000417241.2:p.Gly1800Asp | |
| ENST00000470026.6:c.5402G>A | ENSP00000419274.2:p.Gly1801Asp | |
| ENST00000473961.6:c.5276G>A | ENSP00000420201.2:p.Gly1759Asp | |
| ENST00000476777.6:c.5396G>A | ENSP00000417554.2:p.Gly1799Asp | |
| ENST00000477152.6:c.5324G>A | ENSP00000419988.2:p.Gly1775Asp | |
| ENST00000478531.6:c.2090G>A | ENSP00000420412.2:p.Gly697Asp | |
| ENST00000489037.2:c.5324G>A | ENSP00000420781.2:p.Gly1775Asp | |
| ENST00000493919.6:c.1952G>A | ENSP00000418819.2:p.Gly651Asp | |
| ENST00000494123.6:c.5402G>A | ENSP00000419103.2:p.Gly1801Asp | |
| ENST00000497488.2:c.4514G>A | ENSP00000418986.2:p.Gly1505Asp | |
| ENST00000618469.2:c.5402G>A | ENSP00000478114.2:p.Gly1801Asp | |
| ENST00000634433.2:c.5279G>A | ENSP00000489431.2:p.Gly1760Asp | |
| ENST00000644379.2:c.5468G>A | ENSP00000496570.2:p.Gly1823Asp | |
| ENST00000644555.2:c.1952G>A | ENSP00000494614.2:p.Gly651Asp | |
| ENST00000652672.2:c.5261G>A | ENSP00000498906.2:p.Gly1754Asp | |
| ENST00000484087.6:c.1964G>A | ENSP00000419481.2:p.Gly655Asp | |
| ENST00000700081.1:n.1285G>A | ||
| ENST00000357654.9:c.5402G>A MANE Select | ENSP00000350283.3:p.Gly1801Asp | |
| ENST00000471181.7:c.5465G>A | ENSP00000418960.2:p.Gly1822Asp | |
| ENST00000644379.1:c.1789G>A | ||
| ENST00000352993.7:c.1976G>A | ENSP00000312236.5:p.Gly659Asp | |
| ENST00000357654.7:c.5402G>A | ENSP00000350283.3:p.Gly1801Asp | |
| ENST00000461221.5:c.*5185G>A | ENSP00000418548.1:n.*5185G>A | |
| ENST00000468300.5:c.2021-1422G>A | ENSP00000417148.1:n.2021-1422G>A | |
| ENST00000471181.6:c.5465G>A | ENSP00000418960.2:p.Gly1822Asp | |
| ENST00000491747.6:c.2090G>A | ENSP00000420705.2:p.Gly697Asp | |
| ENST00000493795.5:c.5261G>A | ENSP00000418775.1:p.Gly1754Asp | |
| ENST00000586385.5:c.332G>A | ENSP00000465818.1:p.Gly111Asp | |
| ENST00000591534.5:c.875G>A | ENSP00000467329.1:p.Gly292Asp | |
| ENST00000591849.5:c.101G>A | ENSP00000465347.1:p.Gly34Asp | |
| NM_007294.3:c.5402G>A , LRG_292t1:c.5402G>A | NP_009225.1:p.Gly1801Asp | |
| NM_007297.3:c.5261G>A | NP_009228.2:p.Gly1754Asp | |
| NM_007298.3:c.2090G>A | NP_009229.2:p.Gly697Asp | |
| NM_007299.3:c.2021-1422G>A | NP_009230.2:n.2021-1422G>A | |
| NM_007300.3:c.5465G>A | NP_009231.2:p.Gly1822Asp | |
| NR_027676.1:n.5538G>A | ||
| NM_007294.4:c.5402G>A MANE Select | NP_009225.1:p.Gly1801Asp | |
| NM_007297.4:c.5261G>A | NP_009228.2:p.Gly1754Asp | |
| NM_007299.4:c.2021-1422G>A | NP_009230.2:n.2021-1422G>A | |
| NM_007300.4:c.5465G>A | NP_009231.2:p.Gly1822Asp | |
| NR_027676.2:n.5579G>A |