Canonical Allele Identifier: CA1093601961
Gene:

Linked Data

dbSNP Id: rs1776571777
gnomAD v3: 6-117450235-G-A
gnomAD v4: 6-117450235-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.117450235G>A , CM000668.2:g.117450235G>A GRCh38
NC_000006.11:g.117771398G>A , CM000668.1:g.117771398G>A GRCh37
NC_000006.10:g.117878091G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000467125.1:c.547+116619C>T ENSP00000487717.1:n.547+116619C>T
Search 100 bp 5'
Search 100 bp 3'