Canonical Allele Identifier: CA234906708

Gene:

Linked Data

• dbSNP Id: rs181248538
• gnomAD v2: 12-28198071-T-G
• gnomAD v3: 12-28045138-T-G
• gnomAD v4: 12-28045138-T-G
• MyVariant Identifiers: chr12:g.28198071T>G (hg19) ; chr12:g.28045138T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.28045138T>G , CM000674.2:g.28045138T>G	GRCh38
NC_000012.11:g.28198071T>G , CM000674.1:g.28198071T>G	GRCh37
NC_000012.10:g.28089338T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_931460.1:n.154-6180A>C