Canonical Allele Identifier: CA292625008
Gene:

Linked Data

dbSNP Id: rs1048453495
gnomAD v2: 17-55866245-A-G
gnomAD v3: 17-57788884-A-G
gnomAD v4: 17-57788884-A-G
MyVariant Identifiers: chr17:g.55866245A>G (hg19) chr17:g.57788884A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.57788884A>G , CM000679.2:g.57788884A>G GRCh38
NC_000017.10:g.55866245A>G , CM000679.1:g.55866245A>G GRCh37
NC_000017.9:g.53221244A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_934881.1:n.1608-16688T>C
XR_934881.3:n.3815-16688T>C
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