Linked Data
ClinVar Variation Id:
820943
ClinVar RCV Id:
RCV001014885
dbSNP Id:
rs969594649
gnomAD v4:
3-36993325-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993325G>T , CM000665.2:g.36993325G>T | GRCh38 |
| NC_000003.11:g.37034816G>T , CM000665.1:g.37034816G>T | GRCh37 |
| NC_000003.10:g.37009820G>T | NCBI36 |
| NG_007109.2:g.4976G>T , LRG_216:g.4976G>T | |
| NG_008418.1:g.4980C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-223G>T | ENSP00000500979.2:n.-223G>T |