Canonical Allele Identifier: CA98367534
Gene:

Linked Data

dbSNP Id: rs781680575
gnomAD v2: 4-63423746-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558028G>T , CM000666.2:g.62558028G>T GRCh38
NC_000004.11:g.63423746G>T , CM000666.1:g.63423746G>T GRCh37
NC_000004.10:g.63106341G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5816G>T