Canonical Allele Identifier: CA797158470
Gene:

Linked Data

dbSNP Id: rs1308473353
gnomAD v3: 4-62557901-T-C
gnomAD v4: 4-62557901-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62557901T>C , CM000666.2:g.62557901T>C GRCh38
NC_000004.11:g.63423619T>C , CM000666.1:g.63423619T>C GRCh37
NC_000004.10:g.63106214T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5943T>C