Canonical Allele Identifier: CA1118643408

Gene:

Linked Data

• dbSNP Id: rs550133992
• gnomAD v3: 8-122396020-G-T
• gnomAD v4: 8-122396020-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122396020G>T , CM000670.2:g.122396020G>T	GRCh38
NC_000008.10:g.123408259G>T , CM000670.1:g.123408259G>T	GRCh37
NC_000008.9:g.123477440G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+3152C>A
XR_928599.3:n.152+3152C>A