Canonical Allele Identifier: CA182463508
Gene:

Linked Data

dbSNP Id: rs906055924
gnomAD v3: 8-97269525-T-C
gnomAD v4: 8-97269525-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269525T>C , CM000670.2:g.97269525T>C GRCh38
NC_000008.10:g.98281753T>C , CM000670.1:g.98281753T>C GRCh37
NC_000008.9:g.98350929T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125390.1:n.471+149545A>G