Linked Data
ClinVar Variation Id:
821254
ClinVar RCV Id:
RCV001015487
dbSNP Id:
rs1575373221
gnomAD v4:
3-36993307-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993307A>G , CM000665.2:g.36993307A>G | GRCh38 |
| NC_000003.11:g.37034798A>G , CM000665.1:g.37034798A>G | GRCh37 |
| NC_000003.10:g.37009802A>G | NCBI36 |
| NG_007109.2:g.4958A>G , LRG_216:g.4958A>G | |
| NG_008418.1:g.4998T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-241A>G | ENSP00000500979.2:n.-241A>G |