Canonical Allele Identifier: CA278115117
Gene:

Linked Data

dbSNP Id: rs147684453
gnomAD v2: 16-9343439-G-C
gnomAD v3: 16-9249582-G-C
gnomAD v4: 16-9249582-G-C
MyVariant Identifiers: chr16:g.9343439G>C (hg19) chr16:g.9249582G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249582G>C , CM000678.2:g.9249582G>C GRCh38
NC_000016.9:g.9343439G>C , CM000678.1:g.9343439G>C GRCh37
NC_000016.8:g.9250940G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64849G>C
Search 100 bp 5'
Search 100 bp 3'