Linked Data
ClinVar Variation Id:
2184145
ClinVar RCV Id:
RCV002599972
dbSNP Id:
rs771604601
gnomAD v2:
11-17574726-G-A
gnomAD v3:
11-17553179-G-A
gnomAD v4:
11-17553179-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553179G>A , CM000673.2:g.17553179G>A | GRCh38 |
| NC_000011.9:g.17574726G>A , CM000673.1:g.17574726G>A | GRCh37 |
| NC_000011.8:g.17531302G>A | NCBI36 |
| NG_033191.1:g.10807G>A | |
| NG_033191.2:g.10807G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.389G>A | ENSP00000382323.2:p.Arg130His | |
| ENST00000399397.6:c.353G>A MANE Select | ENSP00000382329.2:p.Arg118His | |
| ENST00000399391.6:c.389G>A | ENSP00000382323.2:p.Arg130His | |
| ENST00000399397.5:c.353G>A | ENSP00000382329.2:p.Arg118His | |
| ENST00000428619.1:c.170G>A | ENSP00000399057.2:p.Arg57His | |
| ENST00000498332.5:n.259G>A | ||
| NM_001277269.1:c.389G>A | NP_001264198.1:p.Arg130His | |
| NM_001292063.1:c.353G>A | NP_001278992.1:p.Arg118His | |
| NM_001277269.2:c.389G>A | NP_001264198.1:p.Arg130His | |
| NM_001292063.2:c.353G>A MANE Select | NP_001278992.1:p.Arg118His |