Canonical Allele Identifier: CA990137545

Gene:

Linked Data

• dbSNP Id: rs2021994494
• gnomAD v3: 18-49645954-C-G
• gnomAD v4: 18-49645954-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49645954C>G , CM000680.2:g.49645954C>G	GRCh38
NC_000018.9:g.47172324C>G , CM000680.1:g.47172324C>G	GRCh37
NC_000018.8:g.45426322C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_935461.1:n.162-16080C>G
XR_001753446.1:n.898-16080C>G