Canonical Allele Identifier: CA98367561
Gene:

Linked Data

dbSNP Id: rs930840911
gnomAD v2: 4-63423874-T-C
gnomAD v3: 4-62558156-T-C
gnomAD v4: 4-62558156-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558156T>C , CM000666.2:g.62558156T>C GRCh38
NC_000004.11:g.63423874T>C , CM000666.1:g.63423874T>C GRCh37
NC_000004.10:g.63106469T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5688T>C