Canonical Allele Identifier: CA857362164
Gene:

Linked Data

dbSNP Id: rs1210022616
gnomAD v3: 8-97269605-G-A
gnomAD v4: 8-97269605-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269605G>A , CM000670.2:g.97269605G>A GRCh38
NC_000008.10:g.98281833G>A , CM000670.1:g.98281833G>A GRCh37
NC_000008.9:g.98351009G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125390.1:n.471+149465C>T