Canonical Allele Identifier: CA552053289
Gene:

Linked Data

dbSNP Id: rs1156965127
gnomAD v2: 4-63424117-T-G
gnomAD v3: 4-62558399-T-G
gnomAD v4: 4-62558399-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558399T>G , CM000666.2:g.62558399T>G GRCh38
NC_000004.11:g.63424117T>G , CM000666.1:g.63424117T>G GRCh37
NC_000004.10:g.63106712T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5445T>G