Linked Data
ClinVar Variation Id:
5095
ClinVar RCV Id:
RCV001799498
dbSNP Id:
rs5030952
gnomAD v2:
2-241542703-C-T
gnomAD v3:
2-240603286-C-T
gnomAD v4:
2-240603286-C-T
PubMed:
PMID:11017071
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240603286C>T , CM000664.2:g.240603286C>T | GRCh38 |
| NC_000002.11:g.241542703C>T , CM000664.1:g.241542703C>T | GRCh37 |
| NC_000002.10:g.241191376C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270364.11:c.274-13102C>T | ENSP00000270364.7:n.274-13102C>T | |
| ENST00000426297.1:c.167-3101C>T |