Canonical Allele Identifier: CA1118643348

Gene:

Linked Data

• dbSNP Id: rs1814948631
• gnomAD v3: 8-122395928-G-T
• gnomAD v4: 8-122395928-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122395928G>T , CM000670.2:g.122395928G>T	GRCh38
NC_000008.10:g.123408167G>T , CM000670.1:g.123408167G>T	GRCh37
NC_000008.9:g.123477348G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+3244C>A
XR_928599.3:n.152+3244C>A