Canonical Allele Identifier: CA158302415
Gene:

Linked Data

dbSNP Id: rs975878122
gnomAD v2: 7-46072581-A-G
gnomAD v3: 7-46032983-A-G
gnomAD v4: 7-46032983-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.46032983A>G , CM000669.2:g.46032983A>G GRCh38
NC_000007.13:g.46072581A>G , CM000669.1:g.46072581A>G GRCh37
NC_000007.12:g.46039106A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745203.1:n.1270-3635A>G