Canonical Allele Identifier: CA14397214
Gene:

Linked Data

dbSNP Id: rs1380181
gnomAD v2: 17-15193056-A-G
gnomAD v3: 17-15289739-A-G
gnomAD v4: 17-15289739-A-G
MyVariant Identifiers: chr17:g.15193056A>G (hg19) chr17:g.15289739A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15289739A>G , CM000679.2:g.15289739A>G GRCh38
NC_000017.10:g.15193056A>G , CM000679.1:g.15193056A>G GRCh37
NC_000017.9:g.15133781A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_934246.1:n.209+180A>G
XR_934247.1:n.209+180A>G
XR_934248.1:n.25+441T>C
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