Canonical Allele Identifier: CA1064221098

Gene:

Linked Data

• dbSNP Id: rs1750547678
• gnomAD v3: 4-74304465-A-G
• gnomAD v4: 4-74304465-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.74304465A>G , CM000666.2:g.74304465A>G	GRCh38
NC_000004.11:g.75170182A>G , CM000666.1:g.75170182A>G	GRCh37
NC_000004.10:g.75389046A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938877.1:n.120-25687T>C
XR_938877.2:n.126-25687T>C