Linked Data
ClinVar Variation Id:
821014
ClinVar RCV Id:
RCV001015035
dbSNP Id:
rs1575373407
gnomAD v4:
3-36993321-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993321A>G , CM000665.2:g.36993321A>G | GRCh38 |
| NC_000003.11:g.37034812A>G , CM000665.1:g.37034812A>G | GRCh37 |
| NC_000003.10:g.37009816A>G | NCBI36 |
| NG_007109.2:g.4972A>G , LRG_216:g.4972A>G | |
| NG_008418.1:g.4984T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-227A>G | ENSP00000500979.2:n.-227A>G |