Linked Data
ClinVar Variation Id:
1784742
ClinVar RCV Id:
RCV002419771
dbSNP Id:
rs1173342374
gnomAD v4:
2-47402990-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47402990G>A , CM000664.2:g.47402990G>A | GRCh38 |
| NC_000002.11:g.47630129G>A , CM000664.1:g.47630129G>A | GRCh37 |
| NC_000002.10:g.47483633G>A | NCBI36 |
| NG_007110.2:g.4867G>A , LRG_218:g.4867G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233146.6:c.-202G>A | ENSP00000233146.2:n.-202G>A |