Linked Data
ClinVar Variation Id:
372231
ClinVar RCV Id:
RCV000412549
dbSNP Id:
rs1057517683
gnomAD v4:
1-17392121-C-T
MyVariant Identifiers:
chr1:g.17392121C>T (hg38)
PubMed:
PMID:27545678
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17392121C>T , CM000663.2:g.17392121C>T | GRCh38 |
| NG_032943.1:g.24876C>T | |
| NG_032943.2:g.24876C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619609.1:c.970C>T MANE Select | ENSP00000483125.1:p.Gln324Ter | |
| NM_207421.4:c.970C>T MANE Select | NP_997304.3:p.Gln324Ter |