Canonical Allele Identifier: CA1083492588

Gene:

Linked Data

• dbSNP Id: rs1754317505
• gnomAD v3: 5-159333166-C-T
• gnomAD v4: 5-159333166-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159333166C>T , CM000667.2:g.159333166C>T	GRCh38
NC_000005.9:g.158760174C>T , CM000667.1:g.158760174C>T	GRCh37
NC_000005.8:g.158692752C>T	NCBI36
NG_009618.1:g.2308G>A , LRG_71:g.2308G>A

Transcript Alleles

HGVS	Amino-acid Change
NR_037889.1:n.745+163C>T