Canonical Allele Identifier: CA289219278
Gene:

Linked Data

dbSNP Id: rs750011826
gnomAD v2: 17-27703275-G-A
gnomAD v3: 17-29376257-G-A
gnomAD v4: 17-29376257-G-A
MyVariant Identifiers: chr17:g.27703275G>A (hg19) chr17:g.29376257G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29376257G>A , CM000679.2:g.29376257G>A GRCh38
NC_000017.10:g.27703275G>A , CM000679.1:g.27703275G>A GRCh37
NC_000017.9:g.24727401G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011525588.1:c.1008-5952C>T XP_011523890.1:n.1008-5952C>T
Search 100 bp 5'
Search 100 bp 3'