Canonical Allele Identifier: CA77269881
Gene:

Linked Data

dbSNP Id: rs11128271
gnomAD v2: 3-72509271-T-C
gnomAD v3: 3-72460120-T-C
gnomAD v4: 3-72460120-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.72460120T>C , CM000665.2:g.72460120T>C GRCh38
NC_000003.11:g.72509271T>C , CM000665.1:g.72509271T>C GRCh37
NC_000003.10:g.72591961T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940961.1:n.304+995T>C
XR_940961.2:n.342+995T>C