Canonical Allele Identifier: CA973405593
Gene:

Linked Data

dbSNP Id: rs1175674484
gnomAD v3: 15-99817300-G-A
gnomAD v4: 15-99817300-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.99817300G>A , CM000677.2:g.99817300G>A GRCh38
NC_000015.9:g.100357505G>A , CM000677.1:g.100357505G>A GRCh37
NC_000015.8:g.98175028G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_932717.1:n.408+4214G>A
XR_932718.1:n.408+4214G>A
XR_932719.1:n.514+8998G>A
XR_932720.1:n.409-1638G>A
NR_135737.1:n.346+4214G>A
Search 100 bp 5'
Search 100 bp 3'