Canonical Allele Identifier: CA1118963426

Gene:

Linked Data

• dbSNP Id: rs1815127910
• gnomAD v3: 8-127012485-T-C
• gnomAD v4: 8-127012485-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127012485T>C , CM000670.2:g.127012485T>C	GRCh38
NC_000008.10:g.128024730T>C , CM000670.1:g.128024730T>C	GRCh37
NC_000008.9:g.128093912T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1364+5867T>C