Canonical Allele Identifier: CA988943639

Gene:

Linked Data

• dbSNP Id: rs2031430548
• gnomAD v3: 18-31756455-C-T
• gnomAD v4: 18-31756455-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31756455C>T , CM000680.2:g.31756455C>T	GRCh38
NC_000018.9:g.29336418C>T , CM000680.1:g.29336418C>T	GRCh37
NC_000018.8:g.27590416C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_935338.1:n.66-5684C>T