Linked Data
ClinVar Variation Id:
297778
ClinVar RCV Id:
RCV000270226
dbSNP Id:
rs61779294
gnomAD v2:
1-59042997-C-T
gnomAD v3:
1-58577325-C-T
gnomAD v4:
1-58577325-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58577325C>T , CM000663.2:g.58577325C>T | GRCh38 |
| NC_000001.10:g.59042997C>T , CM000663.1:g.59042997C>T | GRCh37 |
| NC_000001.9:g.58815585C>T | NCBI36 |
| NG_016237.1:g.5170G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.3:c.-169G>A | ENSP00000360269.2:n.-169G>A | |
| NM_002353.2:c.-169G>A | NP_002344.2:n.-169G>A |