Canonical Allele Identifier: CA182463918
Gene:

Linked Data

dbSNP Id: rs1864729
gnomAD v2: 8-98282189-G-A
gnomAD v3: 8-97269961-G-A
gnomAD v4: 8-97269961-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269961G>A , CM000670.2:g.97269961G>A GRCh38
NC_000008.10:g.98282189G>A , CM000670.1:g.98282189G>A GRCh37
NC_000008.9:g.98351365G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_125390.1:n.471+149109C>T