Canonical Allele Identifier: CA14504074
Gene:

Linked Data

dbSNP Id: rs17760268
gnomAD v2: 17-54611291-C-T
gnomAD v3: 17-56533930-C-T
gnomAD v4: 17-56533930-C-T
MyVariant Identifiers: chr17:g.54611291C>T (hg19) chr17:g.56533930C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56533930C>T , CM000679.2:g.56533930C>T GRCh38
NC_000017.10:g.54611291C>T , CM000679.1:g.54611291C>T GRCh37
NC_000017.9:g.51966290C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_934871.1:n.389-814G>A
XR_934872.1:n.389-814G>A
XR_002958121.1:n.389-814G>A
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