Canonical Allele Identifier: CA1118643443

Gene:

Linked Data

• dbSNP Id: rs1814951688
• gnomAD v3: 8-122396159-C-T
• gnomAD v4: 8-122396159-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122396159C>T , CM000670.2:g.122396159C>T	GRCh38
NC_000008.10:g.123408398C>T , CM000670.1:g.123408398C>T	GRCh37
NC_000008.9:g.123477579C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+3013G>A
XR_928599.3:n.152+3013G>A