Canonical Allele Identifier: CA982866544

Gene:

Linked Data

• gnomAD v3: 17-30237314-T-G
• gnomAD v4: 17-30237314-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237314T>G , CM000679.2:g.30237314T>G	GRCh38
NC_000017.10:g.28564332T>G , CM000679.1:g.28564332T>G	GRCh37
NC_000017.9:g.25588458T>G	NCBI36
NG_011747.2:g.3623A>C

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+244T>G
XR_001752824.1:n.280+244T>G