Canonical Allele Identifier: CA572012564

Gene:

Linked Data

• dbSNP Id: rs10946292
• gnomAD v2: 6-170425521-A-C
• gnomAD v3: 6-170110297-A-C
• gnomAD v4: 6-170110297-A-C
• MyVariant Identifiers: chr6:g.170425521A>C (hg19) ; chr6:g.170110297A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.170110297A>C , CM000668.2:g.170110297A>C	GRCh38
NC_000006.11:g.170425521A>C , CM000668.1:g.170425521A>C	GRCh37
NC_000006.10:g.170267446A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943319.1:n.566-2837T>G
XR_943320.1:n.566-2837T>G