Canonical Allele Identifier: CA98367513
Gene:

Linked Data

dbSNP Id: rs903385407
gnomAD v3: 4-62557856-T-C
gnomAD v4: 4-62557856-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62557856T>C , CM000666.2:g.62557856T>C GRCh38
NC_000004.11:g.63423574T>C , CM000666.1:g.63423574T>C GRCh37
NC_000004.10:g.63106169T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5988T>C