Canonical Allele Identifier: CA98367601
Gene:

Linked Data

dbSNP Id: rs995260497
gnomAD v3: 4-62558465-G-A
gnomAD v4: 4-62558465-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558465G>A , CM000666.2:g.62558465G>A GRCh38
NC_000004.11:g.63424183G>A , CM000666.1:g.63424183G>A GRCh37
NC_000004.10:g.63106778G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5379G>A