Canonical Allele Identifier: CA982817091
Gene:

Linked Data

dbSNP Id: rs2069612629
gnomAD v3: 17-29376234-C-T
gnomAD v4: 17-29376234-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29376234C>T , CM000679.2:g.29376234C>T GRCh38
NC_000017.10:g.27703252C>T , CM000679.1:g.27703252C>T GRCh37
NC_000017.9:g.24727378C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011525588.1:c.1008-5929G>A XP_011523890.1:n.1008-5929G>A
Search 100 bp 5'
Search 100 bp 3'