Canonical Allele Identifier: CA564191866

Gene:

Linked Data

• dbSNP Id: rs997939751
• gnomAD v2: 5-162083538-G-A
• gnomAD v3: 5-162656532-G-A
• gnomAD v4: 5-162656532-G-A
• MyVariant Identifiers: chr5:g.162083538G>A (hg19) ; chr5:g.162656532G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162656532G>A , CM000667.2:g.162656532G>A	GRCh38
NC_000005.9:g.162083538G>A , CM000667.1:g.162083538G>A	GRCh37
NC_000005.8:g.162016116G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742958.1:n.418+3570C>T