Canonical Allele Identifier: CA144309879

Gene:

Linked Data

• dbSNP Id: rs549431923
• gnomAD v2: 6-98462454-C-T
• gnomAD v3: 6-98014578-C-T
• gnomAD v4: 6-98014578-C-T
• MyVariant Identifiers: chr6:g.98462454C>T (hg19) ; chr6:g.98014578C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98014578C>T , CM000668.2:g.98014578C>T	GRCh38
NC_000006.11:g.98462454C>T , CM000668.1:g.98462454C>T	GRCh37
NC_000006.10:g.98569175C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_245563.2:n.371+45112C>T
XR_942809.1:n.371+45112C>T