Canonical Allele Identifier: CA1063282140

Gene:

Linked Data

• dbSNP Id: rs192648321
• gnomAD v3: 4-62558153-C-T
• gnomAD v4: 4-62558153-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.62558153C>T , CM000666.2:g.62558153C>T	GRCh38
NC_000004.11:g.63423871C>T , CM000666.1:g.63423871C>T	GRCh37
NC_000004.10:g.63106466C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938814.1:n.161-5691C>T