Canonical Allele Identifier: CA18888198
Gene:

Linked Data

dbSNP Id: rs899366010
gnomAD v3: 1-19874487-C-T
gnomAD v4: 1-19874487-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.19874487C>T , CM000663.2:g.19874487C>T GRCh38
NC_000001.10:g.20200980C>T , CM000663.1:g.20200980C>T GRCh37
NC_000001.9:g.20073567C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_947027.1:n.266-8735G>A
XR_947028.1:n.266-8735G>A
XR_947027.2:n.167-8735G>A
XR_947028.2:n.167-8735G>A