Canonical Allele Identifier: CA983290099

Gene:

Linked Data

• dbSNP Id: rs2088509214
• gnomAD v4: 17-35880796-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35880796G>A , CM000679.2:g.35880796G>A	GRCh38
NC_000017.9:g.31231913G>A	NCBI36
NG_015990.1:g.4578C>T

Transcript Alleles

HGVS	Amino-acid Change
XR_934696.1:n.197-3586G>A
XR_934697.1:n.200-3586G>A
XR_001752852.1:n.426+722G>A
XR_934696.2:n.91-3586G>A
XR_934697.2:n.91-3586G>A