Canonical Allele Identifier: CA144319782

Gene:

Linked Data

• dbSNP Id: rs895929809
• gnomAD v2: 6-98550324-T-G
• gnomAD v3: 6-98102448-T-G
• gnomAD v4: 6-98102448-T-G
• MyVariant Identifiers: chr6:g.98550324T>G (hg19) ; chr6:g.98102448T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98102448T>G , CM000668.2:g.98102448T>G	GRCh38
NC_000006.11:g.98550324T>G , CM000668.1:g.98550324T>G	GRCh37
NC_000006.10:g.98657045T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_245563.2:n.456+3178T>G
XR_942809.1:n.456+3178T>G