Canonical Allele Identifier: CA11950016

Gene:

Linked Data

• dbSNP Id: rs10065906
• gnomAD v2: 5-159007778-C-A
• gnomAD v3: 5-159580770-C-A
• gnomAD v4: 5-159580770-C-A
• MyVariant Identifiers: chr5:g.159007778C>A (hg19) ; chr5:g.159580770C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159580770C>A , CM000667.2:g.159580770C>A	GRCh38
NC_000005.9:g.159007778C>A , CM000667.1:g.159007778C>A	GRCh37
NC_000005.8:g.158940356C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_941139.1:n.2075+335C>A
XR_941140.1:n.2075+335C>A
XR_941141.1:n.570+335C>A
XR_941139.2:n.2229+335C>A