Canonical Allele Identifier: CA144319789
Gene:

Linked Data

dbSNP Id: rs569085835
gnomAD v3: 6-98102476-C-A
gnomAD v4: 6-98102476-C-A

Genomic Alleles

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

Transcript Alleles

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