Linked Data
ClinVar Variation Id:
293973
ClinVar RCV Id:
RCV000309113
dbSNP Id:
rs759217899
gnomAD v2:
1-183155211-G-A
gnomAD v3:
1-183186076-G-A
gnomAD v4:
1-183186076-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183186076G>A , CM000663.2:g.183186076G>A | GRCh38 |
| NC_000001.10:g.183155211G>A , CM000663.1:g.183155211G>A | GRCh37 |
| NC_000001.9:g.181421834G>A | NCBI36 |
| NG_007079.2:g.4813G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_005562.2:c.-277G>A | NP_005553.2:n.-277G>A | |
| NM_018891.2:c.-277G>A | NP_061486.2:n.-277G>A |