Canonical Allele Identifier: CA15912745
Gene:

Linked Data

dbSNP Id: rs4267385
gnomAD v2: 17-61583756-C-T
gnomAD v3: 17-63506395-C-T
gnomAD v4: 17-63506395-C-T
MyVariant Identifiers: chr17:g.61583756C>T (hg19) chr17:g.63506395C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63506395C>T , CM000679.2:g.63506395C>T GRCh38
NC_000017.10:g.61583756C>T , CM000679.1:g.61583756C>T GRCh37
NC_000017.9:g.58937488C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000577647.2:c.1970-661C>T ENSP00000464149.1:n.1970-661C>T
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Search 100 bp 3'