Canonical Allele Identifier: CA2592914354

Gene:

Linked Data

• dbSNP Id: rs2143936452
• gnomAD v3: 18-41477565-T-G
• gnomAD v4: 18-41477565-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.41477565T>G , CM000680.2:g.41477565T>G	GRCh38
NC_000018.9:g.39057529T>G , CM000680.1:g.39057529T>G	GRCh37
NC_000018.8:g.37311527T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_935409.1:n.86-26569T>G