Canonical Allele Identifier: CA1118643319
Gene:

Linked Data

dbSNP Id: rs1814947338
gnomAD v3: 8-122395819-C-T
gnomAD v4: 8-122395819-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122395819C>T , CM000670.2:g.122395819C>T GRCh38
NC_000008.10:g.123408058C>T , CM000670.1:g.123408058C>T GRCh37
NC_000008.9:g.123477239C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3353G>A
XR_928599.3:n.152+3353G>A
Search 100 bp 5'
Search 100 bp 3'