Linked Data
ClinVar Variation Id:
1777468
ClinVar RCV Id:
RCV002395091
dbSNP Id:
rs1672211068
gnomAD v3:
2-47403027-T-C
gnomAD v4:
2-47403027-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403027T>C , CM000664.2:g.47403027T>C | GRCh38 |
| NC_000002.11:g.47630166T>C , CM000664.1:g.47630166T>C | GRCh37 |
| NC_000002.10:g.47483670T>C | NCBI36 |
| NG_007110.2:g.4904T>C , LRG_218:g.4904T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233146.6:c.-165T>C | ENSP00000233146.2:n.-165T>C |