Canonical Allele Identifier: CA2605492867

Gene:

Linked Data

• dbSNP Id: rs2113056501
• gnomAD v3: 5-152354622-T-G
• gnomAD v4: 5-152354622-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.152354622T>G , CM000667.2:g.152354622T>G	GRCh38
NC_000005.9:g.151734183T>G , CM000667.1:g.151734183T>G	GRCh37
NC_000005.8:g.151714376T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_944433.1:n.196+16759T>G
XR_944433.2:n.197+16759T>G