Linked Data
ClinVar Variation Id:
185544
ClinVar RCV Id:
RCV000164986
dbSNP Id:
rs587781922
gnomAD v3:
3-36993327-C-T
gnomAD v4:
3-36993327-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993327C>T , CM000665.2:g.36993327C>T | GRCh38 |
| NC_000003.11:g.37034818C>T , CM000665.1:g.37034818C>T | GRCh37 |
| NC_000003.10:g.37009822C>T | NCBI36 |
| NG_007109.2:g.4978C>T , LRG_216:g.4978C>T | |
| NG_008418.1:g.4978G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-221C>T | ENSP00000500979.2:n.-221C>T |