Canonical Allele Identifier: CA1083525967

Gene:

Linked Data

• dbSNP Id: rs1757451467
• gnomAD v3: 5-159580806-T-C
• gnomAD v4: 5-159580806-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159580806T>C , CM000667.2:g.159580806T>C	GRCh38
NC_000005.9:g.159007814T>C , CM000667.1:g.159007814T>C	GRCh37
NC_000005.8:g.158940392T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_941139.1:n.2075+371T>C
XR_941140.1:n.2075+371T>C
XR_941141.1:n.570+371T>C
XR_941139.2:n.2229+371T>C