Canonical Allele Identifier: CA1116942060

Gene:

Linked Data

• dbSNP Id: rs1810399752
• gnomAD v3: 8-97269713-C-T
• gnomAD v4: 8-97269713-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269713C>T , CM000670.2:g.97269713C>T	GRCh38
NC_000008.10:g.98281941C>T , CM000670.1:g.98281941C>T	GRCh37
NC_000008.9:g.98351117C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125390.1:n.471+149357G>A