Linked Data
ClinVar Variation Id:
2566724
ClinVar RCV Id:
RCV004332560
dbSNP Id:
rs746816423
ExAC:
7:150769150 G / A
gnomAD v2:
7-150769150-G-A
gnomAD v3:
7-151072063-G-A
gnomAD v4:
7-151072063-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151072063G>A , CM000669.2:g.151072063G>A | GRCh38 |
| NC_000007.13:g.150769150G>A , CM000669.1:g.150769150G>A | GRCh37 |
| NC_000007.12:g.150400083G>A | NCBI36 |
| NG_051947.1:g.18864G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413384.7:c.2462G>A MANE Select | ENSP00000405600.2:p.Arg821His | |
| ENST00000677246.1:c.2462G>A | ENSP00000504447.1:p.Arg821His | |
| ENST00000310317.9:c.2216G>A | ENSP00000311402.5:p.Arg739His | |
| ENST00000392826.6:c.2435G>A | ENSP00000376571.2:p.Arg812His | |
| ENST00000413384.6:c.2462G>A | ENSP00000405600.2:p.Arg821His | |
| ENST00000460010.1:n.399G>A | ||
| ENST00000461735.1:c.2420G>A | ENSP00000419164.1:p.Arg807His | |
| ENST00000472204.1:n.60G>A | ||
| ENST00000482697.1:n.231G>A | ||
| ENST00000485713.5:c.2462G>A | ENSP00000419412.1:p.Arg821His | |
| ENST00000493040.5:n.483G>A | ||
| NM_001199692.1:c.2462G>A | NP_001186621.1:p.Arg821His | |
| NM_001199693.1:c.2435G>A | NP_001186622.1:p.Arg812His | |
| NM_001199694.1:c.2420G>A | NP_001186623.1:p.Arg807His | |
| NM_003040.3:c.2462G>A | NP_003031.3:p.Arg821His | |
| XM_011516497.1:c.2462G>A | XP_011514799.1:p.Arg821His | |
| NM_001199692.2:c.2462G>A | NP_001186621.1:p.Arg821His | |
| NM_001199694.2:c.2420G>A | NP_001186623.1:p.Arg807His | |
| NM_003040.4:c.2462G>A MANE Select | NP_003031.3:p.Arg821His | |
| NM_001199692.3:c.2462G>A | NP_001186621.1:p.Arg821His |