Canonical Allele Identifier: CA158302406
Gene:

Linked Data

dbSNP Id: rs906840216
gnomAD v3: 7-46032896-C-T
gnomAD v4: 7-46032896-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.46032896C>T , CM000669.2:g.46032896C>T GRCh38
NC_000007.13:g.46072494C>T , CM000669.1:g.46072494C>T GRCh37
NC_000007.12:g.46039019C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745203.1:n.1270-3722C>T