Canonical Allele Identifier: CA182463542
Gene:

Linked Data

dbSNP Id: rs960784837
gnomAD v3: 8-97269616-C-G
gnomAD v4: 8-97269616-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269616C>G , CM000670.2:g.97269616C>G GRCh38
NC_000008.10:g.98281844C>G , CM000670.1:g.98281844C>G GRCh37
NC_000008.9:g.98351020C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_125390.1:n.471+149454G>C