Canonical Allele Identifier: CA98367555
Gene:

Linked Data

dbSNP Id: rs1022924216
gnomAD v3: 4-62558133-G-T
gnomAD v4: 4-62558133-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558133G>T , CM000666.2:g.62558133G>T GRCh38
NC_000004.11:g.63423851G>T , CM000666.1:g.63423851G>T GRCh37
NC_000004.10:g.63106446G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5711G>T