Canonical Allele Identifier: CA2602395014
Gene:

Linked Data

gnomAD v3: 8-97269582-T-G
gnomAD v4: 8-97269582-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269582T>G , CM000670.2:g.97269582T>G GRCh38
NC_000008.10:g.98281810T>G , CM000670.1:g.98281810T>G GRCh37
NC_000008.9:g.98350986T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_125390.1:n.471+149488A>C
Search 100 bp 5'
Search 100 bp 3'