Canonical Allele Identifier: CA026385

Gene:

Linked Data

• ClinVar Variation Id: 13086
• ClinVar RCV Id: RCV000013961 ; RCV000492684
• dbSNP Id: rs387906521
• gnomAD v4: 13-48303715-G-A
• MyVariant Identifiers: chr13:g.48877851G>A (hg19) ; chr13:g.48303715G>A (hg38)
• PubMed: PMID:1673287 ; PMID:1881452 ; PMID:2748600 ; PMID:10023315 ; PMID:20447117 ; PMID:24225018

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303715G>A , CM000675.2:g.48303715G>A	GRCh38
NC_000013.10:g.48877851G>A , CM000675.1:g.48877851G>A	GRCh37
NC_000013.9:g.47775852G>A	NCBI36
NG_009009.1:g.4969G>A , LRG_517:g.4969G>A