Canonical Allele Identifier: CA1083000011

Gene:

Linked Data

• dbSNP Id: rs1760950995
• gnomAD v3: 5-152354505-A-G
• gnomAD v4: 5-152354505-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.152354505A>G , CM000667.2:g.152354505A>G	GRCh38
NC_000005.9:g.151734066A>G , CM000667.1:g.151734066A>G	GRCh37
NC_000005.8:g.151714259A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_944433.1:n.196+16642A>G
XR_944433.2:n.197+16642A>G