Canonical Allele Identifier: CA134173720

Gene:

Linked Data

• dbSNP Id: rs549672049
• gnomAD v2: 6-11943885-C-T
• gnomAD v3: 6-11943652-C-T
• gnomAD v4: 6-11943652-C-T
• MyVariant Identifiers: chr6:g.11943885C>T (hg19) ; chr6:g.11943652C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.11943652C>T , CM000668.2:g.11943652C>T	GRCh38
NC_000006.11:g.11943885C>T , CM000668.1:g.11943885C>T	GRCh37
NC_000006.10:g.12051871C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001743976.1:n.348-7883C>T