Canonical Allele Identifier: CA614642939
Gene:

Linked Data

dbSNP Id: rs1199781604
gnomAD v2: 14-62968435-T-C
gnomAD v3: 14-62501717-T-C
gnomAD v4: 14-62501717-T-C
MyVariant Identifiers: chr14:g.62968435T>C (hg19) chr14:g.62501717T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.62501717T>C , CM000676.2:g.62501717T>C GRCh38
NC_000014.8:g.62968435T>C , CM000676.1:g.62968435T>C GRCh37
NC_000014.7:g.62038188T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_943932.1:n.116-2324T>C
XR_943932.2:n.103-2324T>C
Search 100 bp 5'
Search 100 bp 3'