Canonical Allele Identifier: CA625447508
Gene:

Linked Data

dbSNP Id: rs1243931149
gnomAD v2: 17-28564450-G-C
gnomAD v3: 17-30237432-G-C
gnomAD v4: 17-30237432-G-C
MyVariant Identifiers: chr17:g.28564450G>C (hg19) chr17:g.30237432G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237432G>C , CM000679.2:g.30237432G>C GRCh38
NC_000017.10:g.28564450G>C , CM000679.1:g.28564450G>C GRCh37
NC_000017.9:g.25588576G>C NCBI36
NG_011747.2:g.3505C>G

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.166-210G>C
XR_001752824.1:n.281-210G>C
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