Canonical Allele Identifier: CA984958524
Gene:

Linked Data

dbSNP Id: rs2073474895
gnomAD v3: 17-57788865-C-A
gnomAD v4: 17-57788865-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.57788865C>A , CM000679.2:g.57788865C>A GRCh38
NC_000017.10:g.55866226C>A , CM000679.1:g.55866226C>A GRCh37
NC_000017.9:g.53221225C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_934881.1:n.1608-16669G>T
XR_934881.3:n.3815-16669G>T
Search 100 bp 5'
Search 100 bp 3'