Canonical Allele Identifier: CA299344112
Gene:

Linked Data

dbSNP Id: rs919622254
gnomAD v3: 18-41477577-T-C
gnomAD v4: 18-41477577-T-C
MyVariant Identifiers: chr18:g.39057541T>C (hg19) chr18:g.41477577T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.41477577T>C , CM000680.2:g.41477577T>C GRCh38
NC_000018.9:g.39057541T>C , CM000680.1:g.39057541T>C GRCh37
NC_000018.8:g.37311539T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_935409.1:n.86-26557T>C
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