Linked Data
ClinVar Variation Id:
1395672
ClinVar RCV Id:
RCV001887228
dbSNP Id:
rs201955526
gnomAD v2:
10-69991099-G-C
gnomAD v4:
10-68231342-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231342G>C , CM000672.2:g.68231342G>C | GRCh38 |
| NC_000010.10:g.69991099G>C , CM000672.1:g.69991099G>C | GRCh37 |
| NC_000010.9:g.69661105G>C | NCBI36 |
| NG_031934.1:g.5772C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.336C>G MANE Select | ENSP00000362777.3:p.His112Gln | |
| ENST00000373673.4:c.336C>G | ENSP00000362777.3:p.His112Gln | |
| NM_145178.3:c.336C>G | NP_660161.1:p.His112Gln | |
| NM_145178.4:c.336C>G MANE Select | NP_660161.1:p.His112Gln |