Canonical Allele Identifier: CA18810225
Gene:

Linked Data

dbSNP Id: rs16862426
gnomAD v2: 1-19321495-C-T
gnomAD v3: 1-18995001-C-T
gnomAD v4: 1-18995001-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.18995001C>T , CM000663.2:g.18995001C>T GRCh38
NC_000001.10:g.19321495C>T , CM000663.1:g.19321495C>T GRCh37
NC_000001.9:g.19194082C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_947014.1:n.160+1989G>A
XR_947015.1:n.160+1989G>A
XR_001737918.1:n.355+1989G>A
XR_001737919.1:n.355+1989G>A
XR_947014.2:n.621+1989G>A
XR_947015.2:n.621+1989G>A