Canonical Allele Identifier: CA98367600
Gene:

Linked Data

dbSNP Id: rs934713302
gnomAD v2: 4-63424182-C-T
gnomAD v3: 4-62558464-C-T
gnomAD v4: 4-62558464-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558464C>T , CM000666.2:g.62558464C>T GRCh38
NC_000004.11:g.63424182C>T , CM000666.1:g.63424182C>T GRCh37
NC_000004.10:g.63106777C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_938814.1:n.161-5380C>T