Canonical Allele Identifier: CA260835426
Gene:

Linked Data

dbSNP Id: rs891509176
gnomAD v2: 14-51323554-T-C
gnomAD v3: 14-50856836-T-C
gnomAD v4: 14-50856836-T-C
MyVariant Identifiers: chr14:g.51323554T>C (hg19) chr14:g.50856836T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50856836T>C , CM000676.2:g.50856836T>C GRCh38
NC_000014.8:g.51323554T>C , CM000676.1:g.51323554T>C GRCh37
NC_000014.7:g.50393304T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943848.1:n.282+1262A>G
XR_943848.2:n.643+1262A>G
Search 100 bp 5'
Search 100 bp 3'