Linked Data
ClinVar Variation Id:
361700
ClinVar RCV Id:
RCV000285955
dbSNP Id:
rs570347828
gnomAD v2:
8-119964264-G-A
gnomAD v3:
8-118952025-G-A
gnomAD v4:
8-118952025-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118952025G>A , CM000670.2:g.118952025G>A | GRCh38 |
| NC_000008.10:g.119964264G>A , CM000670.1:g.119964264G>A | GRCh37 |
| NC_000008.9:g.120033445G>A | NCBI36 |
| NG_012202.1:g.5120C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297350.8:c.-204C>T | ENSP00000297350.4:n.-204C>T | |
| NM_002546.3:c.-204C>T | NP_002537.3:n.-204C>T |