Canonical Allele Identifier: CA144309892

Gene:

Linked Data

• dbSNP Id: rs535503265
• gnomAD v2: 6-98462539-A-G
• gnomAD v3: 6-98014663-A-G
• gnomAD v4: 6-98014663-A-G
• MyVariant Identifiers: chr6:g.98462539A>G (hg19) ; chr6:g.98014663A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98014663A>G , CM000668.2:g.98014663A>G	GRCh38
NC_000006.11:g.98462539A>G , CM000668.1:g.98462539A>G	GRCh37
NC_000006.10:g.98569260A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_245563.2:n.371+45197A>G
XR_942809.1:n.371+45197A>G