Canonical Allele Identifier: CA141583517

Gene:

Linked Data

• dbSNP Id: rs72960926
• gnomAD v2: 6-75158266-C-A
• gnomAD v3: 6-74448550-C-A
• gnomAD v4: 6-74448550-C-A
• MyVariant Identifiers: chr6:g.75158266C>A (hg19) ; chr6:g.74448550C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.74448550C>A , CM000668.2:g.74448550C>A	GRCh38
NC_000006.11:g.75158266C>A , CM000668.1:g.75158266C>A	GRCh37
NC_000006.10:g.75214986C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_110856.1:n.193+101421C>A