Canonical Allele Identifier: CA988923653

Gene:

Linked Data

• dbSNP Id: rs2031433926
• gnomAD v3: 18-31756765-C-T
• gnomAD v4: 18-31756765-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31756765C>T , CM000680.2:g.31756765C>T	GRCh38
NC_000018.9:g.29336728C>T , CM000680.1:g.29336728C>T	GRCh37
NC_000018.8:g.27590726C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_935338.1:n.66-5374C>T