Canonical Allele Identifier: CA12410715
Gene:

Linked Data

dbSNP Id: rs1540771
gnomAD v2: 6-466033-C-T
gnomAD v3: 6-466033-C-T
gnomAD v4: 6-466033-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.466033C>T , CM000668.2:g.466033C>T GRCh38
NC_000006.11:g.466033C>T , CM000668.1:g.466033C>T GRCh37
NC_000006.10:g.411033C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_926364.1:n.2714+12308C>T
XR_926365.1:n.2548+12308C>T
XR_001743914.1:n.482-9175C>T