Canonical Allele Identifier: CA569191052
Gene:

Linked Data

dbSNP Id: rs1468441605
gnomAD v2: 6-98550351-C-G
gnomAD v3: 6-98102475-C-G
gnomAD v4: 6-98102475-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102475C>G , CM000668.2:g.98102475C>G GRCh38
NC_000006.11:g.98550351C>G , CM000668.1:g.98550351C>G GRCh37
NC_000006.10:g.98657072C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.456+3205C>G
XR_942809.1:n.456+3205C>G