Canonical Allele Identifier: CA14447196
Gene:

Linked Data

dbSNP Id: rs8076739
gnomAD v2: 17-27714587-C-T
gnomAD v3: 17-29387569-C-T
gnomAD v4: 17-29387569-C-T
MyVariant Identifiers: chr17:g.27714587C>T (hg19) chr17:g.29387569C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29387569C>T , CM000679.2:g.29387569C>T GRCh38
NC_000017.10:g.27714587C>T , CM000679.1:g.27714587C>T GRCh37
NC_000017.9:g.24738713C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011525588.1:c.1007+2368G>A XP_011523890.1:n.1007+2368G>A
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