Linked Data
ClinVar Variation Id:
3059171
ClinVar RCV Id:
RCV003979748
dbSNP Id:
rs2294369
ExAC:
22:40075400 G / A
gnomAD v2:
22-40075400-G-A
gnomAD v3:
22-39679395-G-A
gnomAD v4:
22-39679395-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39679395G>A , CM000684.2:g.39679395G>A | GRCh38 |
| NC_000022.10:g.40075400G>A , CM000684.1:g.40075400G>A | GRCh37 |
| NC_000022.9:g.38405346G>A | NCBI36 |
| NG_052947.1:g.113643G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402142.4:c.5344G>A MANE Select | ENSP00000385019.3:p.Gly1782Arg | |
| ENST00000401624.5:c.5344G>A | ENSP00000383887.1:p.Gly1782Arg | |
| ENST00000402142.3:c.5344G>A | ENSP00000385019.3:p.Gly1782Arg | |
| ENST00000404898.5:c.5239G>A | ENSP00000384093.1:p.Gly1747Arg | |
| ENST00000407673.5:c.5239G>A | ENSP00000385680.1:p.Gly1747Arg | |
| NM_001003406.1:c.5239G>A | NP_001003406.1:p.Gly1747Arg | |
| NM_021096.3:c.5344G>A | NP_066919.2:p.Gly1782Arg | |
| XM_011530480.1:c.5239G>A | XP_011528782.1:p.Gly1747Arg | |
| XM_011530481.1:c.5239G>A | XP_011528783.1:p.Gly1747Arg | |
| XM_017029035.2:c.3490G>A | XP_016884524.1:p.Gly1164Arg | |
| XM_017029036.1:c.3490G>A | XP_016884525.1:p.Gly1164Arg | |
| XM_017029037.1:c.3490G>A | XP_016884526.1:p.Gly1164Arg | |
| NM_001003406.2:c.5239G>A | NP_001003406.1:p.Gly1747Arg | |
| NM_021096.4:c.5344G>A MANE Select | NP_066919.2:p.Gly1782Arg |