Canonical Allele Identifier: CA974496509

Gene:

Linked Data

• dbSNP Id: rs538486927
• gnomAD v3: 16-9249533-G-T
• gnomAD v4: 16-9249533-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9249533G>T , CM000678.2:g.9249533G>T	GRCh38
NC_000016.9:g.9343390G>T , CM000678.1:g.9343390G>T	GRCh37
NC_000016.8:g.9250891G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_933054.1:n.70+64800G>T