Canonical Allele Identifier: CA560796667

Gene:

Linked Data

• dbSNP Id: rs987206140
• gnomAD v2: 5-91518820-C-T
• gnomAD v3: 5-92223003-C-T
• gnomAD v4: 5-92223003-C-T
• MyVariant Identifiers: chr5:g.91518820C>T (hg19) ; chr5:g.92223003C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.92223003C>T , CM000667.2:g.92223003C>T	GRCh38
NC_000005.9:g.91518820C>T , CM000667.1:g.91518820C>T	GRCh37
NC_000005.8:g.91554576C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948565.1:n.394+18319C>T