Canonical Allele Identifier: CA1118643400

Gene:

Linked Data

• dbSNP Id: rs1814949612
• gnomAD v3: 8-122396011-T-C
• gnomAD v4: 8-122396011-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122396011T>C , CM000670.2:g.122396011T>C	GRCh38
NC_000008.10:g.123408250T>C , CM000670.1:g.123408250T>C	GRCh37
NC_000008.9:g.123477431T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+3161A>G
XR_928599.3:n.152+3161A>G