Linked Data
dbSNP Id:
rs2800693
gnomAD v2:
1-17722431-C-T
gnomAD v3:
1-17395935-C-T
gnomAD v4:
1-17395935-C-T
MyVariant Identifiers:
chr1:g.17722431C>T (hg19)
chr1:g.17722431_17722432delinsTG (hg19)
chr1:g.17395935C>T (hg38)
chr1:g.17395935_17395936delinsTG (hg38)
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17395935C>T , CM000663.2:g.17395935C>T | GRCh38 |
| NC_000001.10:g.17722431C>T , CM000663.1:g.17722431C>T | GRCh37 |
| NC_000001.9:g.17595018C>T | NCBI36 |
| NG_032943.1:g.28690C>T | |
| NG_032943.2:g.28690C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1618+272C>T MANE Select | ENSP00000483125.1:n.1618+272C>T | |
| NM_207421.4:c.1618+272C>T MANE Select | NP_997304.3:n.1618+272C>T |