Canonical Allele Identifier: CA829129725
Gene:

Linked Data

dbSNP Id: rs1451443227
gnomAD v3: 6-85982255-C-T
gnomAD v4: 6-85982255-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.85982255C>T , CM000668.2:g.85982255C>T GRCh38
NC_000006.11:g.86691973C>T , CM000668.1:g.86691973C>T GRCh37
NC_000006.10:g.86748692C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_241869.3:n.615-11125C>T
XR_942747.1:n.41-1114C>T
XR_942748.1:n.27-1114C>T
XR_001744239.1:n.1570-11125C>T
XR_001744243.1:n.1433-11125C>T
XR_002956361.1:n.1992-11125C>T