Canonical Allele Identifier: CA182463874
Gene:

Linked Data

dbSNP Id: rs887982501
gnomAD v3: 8-97269921-C-T
gnomAD v4: 8-97269921-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269921C>T , CM000670.2:g.97269921C>T GRCh38
NC_000008.10:g.98282149C>T , CM000670.1:g.98282149C>T GRCh37
NC_000008.9:g.98351325C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_125390.1:n.471+149149G>A