Canonical Allele Identifier: CA942547567

Gene:

Linked Data

• dbSNP Id: rs1864209692
• gnomAD v3: 11-116072515-A-G
• gnomAD v4: 11-116072515-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116072515A>G , CM000673.2:g.116072515A>G	GRCh38
NC_000011.9:g.115943233A>G , CM000673.1:g.115943233A>G	GRCh37
NC_000011.8:g.115448443A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948055.1:n.192+499T>C
XR_948056.1:n.311-5310T>C
XR_948057.1:n.97+594T>C
XR_001748401.1:n.192+499T>C
XR_948055.2:n.192+499T>C
XR_948056.2:n.314-5310T>C
XR_948057.2:n.97+594T>C