Canonical Allele Identifier: CA1085192434

Gene:

Linked Data

• dbSNP Id: rs1762567046
• gnomAD v3: 6-465805-G-T
• gnomAD v4: 6-465805-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.465805G>T , CM000668.2:g.465805G>T	GRCh38
NC_000006.11:g.465805G>T , CM000668.1:g.465805G>T	GRCh37
NC_000006.10:g.410805G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_926364.1:n.2714+12080G>T
XR_926365.1:n.2548+12080G>T
XR_001743914.1:n.482-9403G>T