Canonical Allele Identifier: CA1092269931

Gene:

Linked Data

• dbSNP Id: rs569085835
• gnomAD v3: 6-98102476-C-T
• gnomAD v4: 6-98102476-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98102476C>T , CM000668.2:g.98102476C>T	GRCh38
NC_000006.11:g.98550352C>T , CM000668.1:g.98550352C>T	GRCh37
NC_000006.10:g.98657073C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_245563.2:n.456+3206C>T
XR_942809.1:n.456+3206C>T