Canonical Allele Identifier: CA856574036
Gene:

Linked Data

dbSNP Id: rs1358398456
gnomAD v3: 8-88981222-A-T
gnomAD v4: 8-88981222-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88981222A>T , CM000670.2:g.88981222A>T GRCh38
NC_000008.10:g.89993451A>T , CM000670.1:g.89993451A>T GRCh37
NC_000008.9:g.90062567A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_002956667.1:n.179-99161T>A