Canonical Allele Identifier: CA583781725
Gene:

Linked Data

dbSNP Id: rs62507236
gnomAD v2: 8-98281939-A-G
gnomAD v3: 8-97269711-A-G
gnomAD v4: 8-97269711-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269711A>G , CM000670.2:g.97269711A>G GRCh38
NC_000008.10:g.98281939A>G , CM000670.1:g.98281939A>G GRCh37
NC_000008.9:g.98351115A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125390.1:n.471+149359T>C