Canonical Allele Identifier: CA833583394
Gene:

Linked Data

dbSNP Id: rs1265218959
gnomAD v3: 7-13400560-T-G
gnomAD v4: 7-13400560-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400560T>G , CM000669.2:g.13400560T>G GRCh38
NC_000007.13:g.13440185T>G , CM000669.1:g.13440185T>G GRCh37
NC_000007.12:g.13406710T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90237T>G