Canonical Allele Identifier: CA1083525949

Gene:

Linked Data

• dbSNP Id: rs1442766003
• gnomAD v3: 5-159580777-A-T
• gnomAD v4: 5-159580777-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159580777A>T , CM000667.2:g.159580777A>T	GRCh38
NC_000005.9:g.159007785A>T , CM000667.1:g.159007785A>T	GRCh37
NC_000005.8:g.158940363A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_941139.1:n.2075+342A>T
XR_941140.1:n.2075+342A>T
XR_941141.1:n.570+342A>T
XR_941139.2:n.2229+342A>T