Linked Data
ClinVar Variation Id:
287181
ClinVar RCV Id:
RCV000361224
dbSNP Id:
rs886043588
gnomAD v3:
1-94001947-C-G
gnomAD v4:
1-94001947-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001947C>G , CM000663.2:g.94001947C>G | GRCh38 |
| NC_000001.10:g.94467503C>G , CM000663.1:g.94467503C>G | GRCh37 |
| NC_000001.9:g.94240091C>G | NCBI36 |
| NG_009073.1:g.124203G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6193G>C MANE Select | ENSP00000359245.3:p.Asp2065His | |
| ENST00000370225.3:c.6193G>C | ENSP00000359245.3:p.Asp2065His | |
| ENST00000465352.1:n.609G>C | ||
| ENST00000536513.5:c.2569G>C | ENSP00000439707.2:p.Asp857His | |
| NM_000350.2:c.6193G>C | NP_000341.2:p.Asp2065His | |
| NM_000350.3:c.6193G>C MANE Select | NP_000341.2:p.Asp2065His |