Linked Data
ClinVar Variation Id:
1750998
dbSNP Id:
rs1026004197
gnomAD v3:
20-10673526-C-T
gnomAD v4:
20-10673526-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673526C>T , CM000682.2:g.10673526C>T | GRCh38 |
| NC_000020.10:g.10654174C>T , CM000682.1:g.10654174C>T | GRCh37 |
| NC_000020.9:g.10602174C>T | NCBI36 |
| NG_007496.1:g.5521G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.5G>A MANE Select | ENSP00000254958.4:p.Arg2His | |
| ENST00000254958.9:c.5G>A | ENSP00000254958.4:p.Arg2His | |
| NM_000214.2:c.5G>A | NP_000205.1:p.Arg2His | |
| NM_000214.3:c.5G>A MANE Select | NP_000205.1:p.Arg2His |