Canonical Allele Identifier: CA625447494

Gene:

Linked Data

• dbSNP Id: rs1205393829
• gnomAD v2: 17-28564375-T-G
• gnomAD v3: 17-30237357-T-G
• gnomAD v4: 17-30237357-T-G
• MyVariant Identifiers: chr17:g.28564375T>G (hg19) ; chr17:g.30237357T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237357T>G , CM000679.2:g.30237357T>G	GRCh38
NC_000017.10:g.28564375T>G , CM000679.1:g.28564375T>G	GRCh37
NC_000017.9:g.25588501T>G	NCBI36
NG_011747.2:g.3580A>C

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.166-285T>G
XR_001752824.1:n.281-285T>G