Canonical Allele Identifier: CA1929213480

Gene:

Linked Data

• dbSNP Id: rs1848184602
• gnomAD v4: 10-94762623-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94762623C>T , CM000672.2:g.94762623C>T	GRCh38
NC_000010.10:g.96522380C>T , CM000672.1:g.96522380C>T	GRCh37
NC_000010.9:g.96512370C>T	NCBI36
NG_008384.2:g.4918C>T
NG_008384.3:g.4943C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000464755.1:c.932-12435C>T	ENSP00000483243.1:n.932-12435C>T