Canonical Allele Identifier: CA234906715

Gene:

Linked Data

• dbSNP Id: rs141187589
• gnomAD v2: 12-28198166-G-A
• gnomAD v3: 12-28045233-G-A
• gnomAD v4: 12-28045233-G-A
• MyVariant Identifiers: chr12:g.28198166G>A (hg19) ; chr12:g.28045233G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.28045233G>A , CM000674.2:g.28045233G>A	GRCh38
NC_000012.11:g.28198166G>A , CM000674.1:g.28198166G>A	GRCh37
NC_000012.10:g.28089433G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_931460.1:n.154-6275C>T