Canonical Allele Identifier: CA2591738136

Gene:

Linked Data

• dbSNP Id: rs1568005672
• gnomAD v3: 18-31756499-C-T
• gnomAD v4: 18-31756499-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31756499C>T , CM000680.2:g.31756499C>T	GRCh38
NC_000018.9:g.29336462C>T , CM000680.1:g.29336462C>T	GRCh37
NC_000018.8:g.27590460C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_935338.1:n.66-5640C>T