Linked Data
ClinVar Variation Id:
941485
ClinVar RCV Id:
RCV001211275
dbSNP Id:
rs151145662
gnomAD v2:
1-94487221-T-C
gnomAD v3:
1-94021665-T-C
gnomAD v4:
1-94021665-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021665T>C , CM000663.2:g.94021665T>C | GRCh38 |
| NC_000001.10:g.94487221T>C , CM000663.1:g.94487221T>C | GRCh37 |
| NC_000001.9:g.94259809T>C | NCBI36 |
| NG_009073.1:g.104485A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4823A>G MANE Select | ENSP00000359245.3:p.His1608Arg | |
| ENST00000370225.3:c.4823A>G | ENSP00000359245.3:p.His1608Arg | |
| ENST00000460514.1:n.317A>G | ||
| ENST00000536513.5:c.1199A>G | ENSP00000439707.2:p.His400Arg | |
| NM_000350.2:c.4823A>G | NP_000341.2:p.His1608Arg | |
| NM_000350.3:c.4823A>G MANE Select | NP_000341.2:p.His1608Arg |