Canonical Allele Identifier: CA1118963425

Gene:

Linked Data

• dbSNP Id: rs1815127695
• gnomAD v3: 8-127012470-C-T
• gnomAD v4: 8-127012470-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127012470C>T , CM000670.2:g.127012470C>T	GRCh38
NC_000008.10:g.128024715C>T , CM000670.1:g.128024715C>T	GRCh37
NC_000008.9:g.128093897C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1364+5852C>T