Canonical Allele Identifier: CA625447448

Gene:

Linked Data

• dbSNP Id: rs1183148839
• gnomAD v2: 17-28564301-G-C
• gnomAD v3: 17-30237283-G-C
• gnomAD v4: 17-30237283-G-C
• MyVariant Identifiers: chr17:g.28564301G>C (hg19) ; chr17:g.30237283G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237283G>C , CM000679.2:g.30237283G>C	GRCh38
NC_000017.10:g.28564301G>C , CM000679.1:g.28564301G>C	GRCh37
NC_000017.9:g.25588427G>C	NCBI36
NG_011747.2:g.3654C>G

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+213G>C
XR_001752824.1:n.280+213G>C