Canonical Allele Identifier: CA1116942034
Gene:

Linked Data

dbSNP Id: rs1810398878
gnomAD v3: 8-97269687-T-A
gnomAD v4: 8-97269687-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269687T>A , CM000670.2:g.97269687T>A GRCh38
NC_000008.10:g.98281915T>A , CM000670.1:g.98281915T>A GRCh37
NC_000008.9:g.98351091T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125390.1:n.471+149383A>T