Canonical Allele Identifier: CA569191038
Gene:

Linked Data

dbSNP Id: rs1562230664
gnomAD v2: 6-98550328-C-T
gnomAD v3: 6-98102452-C-T
gnomAD v4: 6-98102452-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102452C>T , CM000668.2:g.98102452C>T GRCh38
NC_000006.11:g.98550328C>T , CM000668.1:g.98550328C>T GRCh37
NC_000006.10:g.98657049C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.456+3182C>T
XR_942809.1:n.456+3182C>T