Canonical Allele Identifier: CA1098370417
Gene:

Linked Data

dbSNP Id: rs1779982636
gnomAD v3: 7-10667229-G-A
gnomAD v4: 7-10667229-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.10667229G>A , CM000669.2:g.10667229G>A GRCh38
NC_000007.13:g.10706856G>A , CM000669.1:g.10706856G>A GRCh37
NC_000007.12:g.10673381G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_147499.1:n.64-105652C>T
XR_001745090.1:n.376-8067G>A
Search 100 bp 5'
Search 100 bp 3'