Canonical Allele Identifier: CA1118643302

Gene:

Linked Data

• dbSNP Id: rs1814946669
• gnomAD v3: 8-122395775-T-C
• gnomAD v4: 8-122395775-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122395775T>C , CM000670.2:g.122395775T>C	GRCh38
NC_000008.10:g.123408014T>C , CM000670.1:g.123408014T>C	GRCh37
NC_000008.9:g.123477195T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+3397A>G
XR_928599.3:n.152+3397A>G