Canonical Allele Identifier: CA122896173

Gene:

Linked Data

• dbSNP Id: rs995956350
• gnomAD v2: 5-91518786-T-G
• gnomAD v3: 5-92222969-T-G
• gnomAD v4: 5-92222969-T-G
• MyVariant Identifiers: chr5:g.91518786T>G (hg19) ; chr5:g.92222969T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.92222969T>G , CM000667.2:g.92222969T>G	GRCh38
NC_000005.9:g.91518786T>G , CM000667.1:g.91518786T>G	GRCh37
NC_000005.8:g.91554542T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948565.1:n.394+18285T>G