Canonical Allele Identifier: CA1116942010

Gene:

Linked Data

• dbSNP Id: rs1810397835
• gnomAD v3: 8-97269617-T-C
• gnomAD v4: 8-97269617-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269617T>C , CM000670.2:g.97269617T>C	GRCh38
NC_000008.10:g.98281845T>C , CM000670.1:g.98281845T>C	GRCh37
NC_000008.9:g.98351021T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_125390.1:n.471+149453A>G