Canonical Allele Identifier: CA945946258

Gene:

Linked Data

• dbSNP Id: rs1865523463
• gnomAD v3: 12-28045168-T-C
• gnomAD v4: 12-28045168-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.28045168T>C , CM000674.2:g.28045168T>C	GRCh38
NC_000012.11:g.28198101T>C , CM000674.1:g.28198101T>C	GRCh37
NC_000012.10:g.28089368T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_931460.1:n.154-6210A>G