Canonical Allele Identifier: CA1116941956

Gene:

Linked Data

• dbSNP Id: rs1810396228
• gnomAD v3: 8-97269512-G-A
• gnomAD v4: 8-97269512-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269512G>A , CM000670.2:g.97269512G>A	GRCh38
NC_000008.10:g.98281740G>A , CM000670.1:g.98281740G>A	GRCh37
NC_000008.9:g.98350916G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125390.1:n.471+149558C>T