Canonical Allele Identifier: CA1063282123
Gene:

Linked Data

dbSNP Id: rs1756226825
gnomAD v3: 4-62558094-T-C
gnomAD v4: 4-62558094-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558094T>C , CM000666.2:g.62558094T>C GRCh38
NC_000004.11:g.63423812T>C , CM000666.1:g.63423812T>C GRCh37
NC_000004.10:g.63106407T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5750T>C