Canonical Allele Identifier: CA16185507
Gene:

Linked Data

dbSNP Id: rs11944965
gnomAD v2: 4-63424089-C-T
gnomAD v3: 4-62558371-C-T
gnomAD v4: 4-62558371-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558371C>T , CM000666.2:g.62558371C>T GRCh38
NC_000004.11:g.63424089C>T , CM000666.1:g.63424089C>T GRCh37
NC_000004.10:g.63106684C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_938814.1:n.161-5473C>T