Canonical Allele Identifier: CA133346599

Gene:

Linked Data

• dbSNP Id: rs59576676
• gnomAD v2: 6-465912-C-T
• gnomAD v3: 6-465912-C-T
• gnomAD v4: 6-465912-C-T
• MyVariant Identifiers: chr6:g.465912C>T (hg19) ; chr6:g.465912C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.465912C>T , CM000668.2:g.465912C>T	GRCh38
NC_000006.11:g.465912C>T , CM000668.1:g.465912C>T	GRCh37
NC_000006.10:g.410912C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_926364.1:n.2714+12187C>T
XR_926365.1:n.2548+12187C>T
XR_001743914.1:n.482-9296C>T