Canonical Allele Identifier: CA240383603

Gene:

Linked Data

• dbSNP Id: rs1050307643
• gnomAD v2: 12-85346010-T-C
• gnomAD v3: 12-84952231-T-C
• gnomAD v4: 12-84952231-T-C
• MyVariant Identifiers: chr12:g.85346010T>C (hg19) ; chr12:g.84952231T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.84952231T>C , CM000674.2:g.84952231T>C	GRCh38
NC_000012.11:g.85346010T>C , CM000674.1:g.85346010T>C	GRCh37
NC_000012.10:g.83870141T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_945152.1:n.316+30917T>C
XR_945153.1:n.301+13767T>C
XR_945154.1:n.175-36711T>C
XR_945155.1:n.330+30917T>C
XR_945152.2:n.316+30917T>C
XR_945154.2:n.175-36711T>C
XR_945155.2:n.888+30917T>C