Canonical Allele Identifier: CA122895944

Gene:

Linked Data

• dbSNP Id: rs916482201
• gnomAD v2: 5-91518581-A-G
• gnomAD v3: 5-92222764-A-G
• gnomAD v4: 5-92222764-A-G
• MyVariant Identifiers: chr5:g.91518581A>G (hg19) ; chr5:g.92222764A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.92222764A>G , CM000667.2:g.92222764A>G	GRCh38
NC_000005.9:g.91518581A>G , CM000667.1:g.91518581A>G	GRCh37
NC_000005.8:g.91554337A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948565.1:n.394+18080A>G