Canonical Allele Identifier: CA14449141
Gene:

Linked Data

dbSNP Id: rs1905339
gnomAD v2: 17-40582296-T-C
gnomAD v3: 17-42430278-T-C
gnomAD v4: 17-42430278-T-C
MyVariant Identifiers: chr17:g.40582296T>C (hg19) chr17:g.42430278T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42430278T>C , CM000679.2:g.42430278T>C GRCh38
NC_000017.10:g.40582296T>C , CM000679.1:g.40582296T>C GRCh37
NC_000017.9:g.37835822T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_934762.1:n.505+5216T>C
XR_934763.1:n.423+5216T>C
XR_934765.1:n.255+5216T>C
XR_001752890.2:n.326+5216T>C
XR_002958124.1:n.382-5988T>C
XR_934762.2:n.553+5216T>C
XR_934765.2:n.257+5216T>C
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