Linked Data
ClinVar Variation Id:
1000291
ClinVar RCV Id:
RCV001296404
dbSNP Id:
rs2044028072
gnomAD v4:
10-68231595-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231595G>C , CM000672.2:g.68231595G>C | GRCh38 |
| NC_000010.10:g.69991352G>C , CM000672.1:g.69991352G>C | GRCh37 |
| NC_000010.9:g.69661358G>C | NCBI36 |
| NG_031934.1:g.5519C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.83C>G MANE Select | ENSP00000362777.3:p.Thr28Arg | |
| ENST00000373673.4:c.83C>G | ENSP00000362777.3:p.Thr28Arg | |
| NM_145178.3:c.83C>G | NP_660161.1:p.Thr28Arg | |
| NM_145178.4:c.83C>G MANE Select | NP_660161.1:p.Thr28Arg |