Linked Data
ClinVar Variation Id:
1771013
ClinVar RCV Id:
RCV002383670
dbSNP Id:
rs2103859541
gnomAD v4:
2-47403056-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403056C>T , CM000664.2:g.47403056C>T | GRCh38 |
| NC_000002.11:g.47630195C>T , CM000664.1:g.47630195C>T | GRCh37 |
| NC_000002.10:g.47483699C>T | NCBI36 |
| NG_007110.2:g.4933C>T , LRG_218:g.4933C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233146.6:c.-136C>T | ENSP00000233146.2:n.-136C>T |