Linked Data
ClinVar Variation Id:
968891
ClinVar RCV Id:
RCV001244131
dbSNP Id:
rs867300150
gnomAD v2:
10-69991394-C-T
gnomAD v3:
10-68231637-C-T
gnomAD v4:
10-68231637-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231637C>T , CM000672.2:g.68231637C>T | GRCh38 |
| NC_000010.10:g.69991394C>T , CM000672.1:g.69991394C>T | GRCh37 |
| NC_000010.9:g.69661400C>T | NCBI36 |
| NG_031934.1:g.5477G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.41G>A MANE Select | ENSP00000362777.3:p.Arg14His | |
| ENST00000373673.4:c.41G>A | ENSP00000362777.3:p.Arg14His | |
| NM_145178.3:c.41G>A | NP_660161.1:p.Arg14His | |
| NM_145178.4:c.41G>A MANE Select | NP_660161.1:p.Arg14His |