Linked Data
ClinVar Variation Id:
517260
ClinVar RCV Id:
RCV000612114
dbSNP Id:
rs1032491736
gnomAD v2:
11-17591775-G-A
gnomAD v3:
11-17570228-G-A
gnomAD v4:
11-17570228-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17570228G>A , CM000673.2:g.17570228G>A | GRCh38 |
| NC_000011.9:g.17591775G>A , CM000673.1:g.17591775G>A | GRCh37 |
| NC_000011.8:g.17548351G>A | NCBI36 |
| NG_033191.1:g.27856G>A | |
| NG_033191.2:g.27856G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399391.7:c.1829G>A | ENSP00000382323.2:p.Arg610His | |
| ENST00000399397.6:c.1793G>A MANE Select | ENSP00000382329.2:p.Arg598His | |
| ENST00000399391.6:c.1829G>A | ENSP00000382323.2:p.Arg610His | |
| ENST00000399397.5:c.1793G>A | ENSP00000382329.2:p.Arg598His | |
| ENST00000498332.5:n.1699G>A | ||
| NM_001277269.1:c.1829G>A | NP_001264198.1:p.Arg610His | |
| NM_001292063.1:c.1793G>A | NP_001278992.1:p.Arg598His | |
| NM_001277269.2:c.1829G>A | NP_001264198.1:p.Arg610His | |
| NM_001292063.2:c.1793G>A MANE Select | NP_001278992.1:p.Arg598His |