Canonical Allele Identifier: CA915671305
Gene:

Linked Data

dbSNP Id: rs1563625951
gnomAD v2: 8-98281966-C-G
gnomAD v3: 8-97269738-C-G
gnomAD v4: 8-97269738-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269738C>G , CM000670.2:g.97269738C>G GRCh38
NC_000008.10:g.98281966C>G , CM000670.1:g.98281966C>G GRCh37
NC_000008.9:g.98351142C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125390.1:n.471+149332G>C
Search 100 bp 5'
Search 100 bp 3'