Canonical Allele Identifier: CA830285994

Gene:

Linked Data

• dbSNP Id: rs1197269195
• gnomAD v3: 6-98014471-C-T
• gnomAD v4: 6-98014471-C-T
• MyVariant Identifiers: chr6:g.98462347C>T (hg19) ; chr6:g.98014471C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98014471C>T , CM000668.2:g.98014471C>T	GRCh38
NC_000006.11:g.98462347C>T , CM000668.1:g.98462347C>T	GRCh37
NC_000006.10:g.98569068C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_245563.2:n.371+45005C>T
XR_942809.1:n.371+45005C>T