Linked Data
ClinVar Variation Id:
424599
dbSNP Id:
rs369429452
ExAC:
20:43052757 G / A
gnomAD v2:
20-43052757-G-A
gnomAD v3:
20-44424117-G-A
gnomAD v4:
20-44424117-G-A
ERepo:
CA9870414/MONDO:0015967/085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44424117G>A , CM000682.2:g.44424117G>A | GRCh38 |
| NC_000020.10:g.43052757G>A , CM000682.1:g.43052757G>A | GRCh37 |
| NC_000020.9:g.42486171G>A | NCBI36 |
| NG_009818.1:g.73317G>A , LRG_483:g.73317G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.926G>A MANE Select | ENSP00000315180.4:p.Arg309His | |
| ENST00000316099.10:c.992G>A | ENSP00000312987.3:p.Arg331His | |
| ENST00000619550.5:c.966G>A | ||
| ENST00000316099.9:c.992G>A | ENSP00000312987.3:p.Arg331His | |
| ENST00000316099.8:c.992G>A | ENSP00000312987.3:p.Arg331His | |
| ENST00000316673.8:c.926G>A | ENSP00000315180.4:p.Arg309His | |
| ENST00000372920.1:c.*759G>A | ENSP00000362011.1:n.*759G>A | |
| ENST00000415691.2:c.992G>A | ENSP00000412111.1:p.Arg331His | |
| ENST00000443598.6:c.992G>A | ENSP00000410911.2:p.Arg331His | |
| ENST00000457232.5:c.926G>A | ENSP00000396216.1:p.Arg309His | |
| ENST00000609795.5:c.926G>A | ENSP00000476609.1:p.Arg309His | |
| ENST00000619550.4:c.917G>A | ENSP00000481331.1:p.Arg306His | |
| NM_000457.4:c.992G>A , LRG_483t2:c.992G>A | NP_000448.3:p.Arg331His | |
| NM_001030003.2:c.926G>A | NP_001025174.1:p.Arg309His | |
| NM_001030004.2:c.926G>A | NP_001025175.1:p.Arg309His | |
| NM_001258355.1:c.971G>A | NP_001245284.1:p.Arg324His | |
| NM_001287182.1:c.917G>A | NP_001274111.1:p.Arg306His | |
| NM_001287183.1:c.917G>A , LRG_483t3:c.917G>A | NP_001274112.1:p.Arg306His | |
| NM_001287184.1:c.917G>A | NP_001274113.1:p.Arg306His | |
| NM_175914.4:c.926G>A , LRG_483t1:c.926G>A | NP_787110.2:p.Arg309His | |
| NM_178849.2:c.992G>A | NP_849180.1:p.Arg331His | |
| NM_178850.2:c.992G>A | NP_849181.1:p.Arg331His | |
| XM_005260407.2:c.1109G>A | XP_005260464.1:p.Arg370His | |
| XM_011528797.1:c.1040G>A | XP_011527099.1:p.Arg347His | |
| XM_011528798.1:c.1040G>A | XP_011527100.1:p.Arg347His | |
| XM_005260407.4:c.1109G>A | XP_005260464.1:p.Arg370His | |
| NM_001030003.3:c.926G>A | NP_001025174.1:p.Arg309His | |
| NM_001030004.3:c.926G>A | NP_001025175.1:p.Arg309His | |
| NM_001258355.2:c.971G>A | NP_001245284.1:p.Arg324His | |
| NM_001287182.2:c.917G>A | NP_001274111.1:p.Arg306His | |
| NM_001287184.2:c.917G>A | NP_001274113.1:p.Arg306His | |
| NM_178849.3:c.992G>A | NP_849180.1:p.Arg331His | |
| NM_178850.3:c.992G>A | NP_849181.1:p.Arg331His | |
| NM_000457.5:c.992G>A | NP_000448.3:p.Arg331His | |
| NM_000457.6:c.992G>A | NP_000448.3:p.Arg331His | |
| NM_001287183.2:c.917G>A | NP_001274112.1:p.Arg306His | |
| NM_175914.5:c.926G>A MANE Select | NP_787110.2:p.Arg309His |