Canonical Allele Identifier: CA292625013
Gene:

Linked Data

dbSNP Id: rs12938916
gnomAD v2: 17-55866287-G-A
gnomAD v3: 17-57788926-G-A
gnomAD v4: 17-57788926-G-A
MyVariant Identifiers: chr17:g.55866287G>A (hg19) chr17:g.57788926G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.57788926G>A , CM000679.2:g.57788926G>A GRCh38
NC_000017.10:g.55866287G>A , CM000679.1:g.55866287G>A GRCh37
NC_000017.9:g.53221286G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_934881.1:n.1608-16730C>T
XR_934881.3:n.3815-16730C>T
Search 100 bp 5'
Search 100 bp 3'