Canonical Allele Identifier: CA977151086

Gene:

Linked Data

• dbSNP Id: rs1293375972
• gnomAD v3: 16-49108764-C-T
• gnomAD v4: 16-49108764-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.49108764C>T , CM000678.2:g.49108764C>T	GRCh38
NC_000016.9:g.49142675C>T , CM000678.1:g.49142675C>T	GRCh37
NC_000016.8:g.47700176C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933517.1:n.810+1180G>A
XR_001752138.2:n.591+5212G>A
XR_933517.2:n.810+1180G>A