Canonical Allele Identifier: CA604287221

Gene:

Linked Data

• dbSNP Id: rs1232369311
• gnomAD v2: 12-28198096-T-G
• gnomAD v3: 12-28045163-T-G
• gnomAD v4: 12-28045163-T-G
• MyVariant Identifiers: chr12:g.28198096T>G (hg19) ; chr12:g.28045163T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.28045163T>G , CM000674.2:g.28045163T>G	GRCh38
NC_000012.11:g.28198096T>G , CM000674.1:g.28198096T>G	GRCh37
NC_000012.10:g.28089363T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_931460.1:n.154-6205A>C