Canonical Allele Identifier: CA182463537
Gene:

Linked Data

dbSNP Id: rs891115171
gnomAD v3: 8-97269578-G-T
gnomAD v4: 8-97269578-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269578G>T , CM000670.2:g.97269578G>T GRCh38
NC_000008.10:g.98281806G>T , CM000670.1:g.98281806G>T GRCh37
NC_000008.9:g.98350982G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125390.1:n.471+149492C>A