Canonical Allele Identifier: CA625447398
Gene:

Linked Data

dbSNP Id: rs1365732415
gnomAD v2: 17-28564119-G-C
gnomAD v3: 17-30237101-G-C
gnomAD v4: 17-30237101-G-C
MyVariant Identifiers: chr17:g.28564119G>C (hg19) chr17:g.30237101G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237101G>C , CM000679.2:g.30237101G>C GRCh38
NC_000017.10:g.28564119G>C , CM000679.1:g.28564119G>C GRCh37
NC_000017.9:g.25588245G>C NCBI36
NG_011747.2:g.3836C>G

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+31G>C
XR_001752824.1:n.280+31G>C
Search 100 bp 5'
Search 100 bp 3'