Canonical Allele Identifier: CA1063282199
Gene:

Linked Data

dbSNP Id: rs1756229777
gnomAD v3: 4-62558267-C-T
gnomAD v4: 4-62558267-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558267C>T , CM000666.2:g.62558267C>T GRCh38
NC_000004.11:g.63423985C>T , CM000666.1:g.63423985C>T GRCh37
NC_000004.10:g.63106580C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5577C>T