Canonical Allele Identifier: CA240383594

Gene:

Linked Data

• dbSNP Id: rs988585607
• gnomAD v3: 12-84952137-T-G
• gnomAD v4: 12-84952137-T-G
• MyVariant Identifiers: chr12:g.85345916T>G (hg19) ; chr12:g.84952137T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.84952137T>G , CM000674.2:g.84952137T>G	GRCh38
NC_000012.11:g.85345916T>G , CM000674.1:g.85345916T>G	GRCh37
NC_000012.10:g.83870047T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_945152.1:n.316+30823T>G
XR_945153.1:n.301+13673T>G
XR_945154.1:n.175-36805T>G
XR_945155.1:n.330+30823T>G
XR_945152.2:n.316+30823T>G
XR_945154.2:n.175-36805T>G
XR_945155.2:n.888+30823T>G