Canonical Allele Identifier: CA963063574

Gene:

Linked Data

• dbSNP Id: rs2045894014
• gnomAD v3: 14-50856996-T-G
• gnomAD v4: 14-50856996-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50856996T>G , CM000676.2:g.50856996T>G	GRCh38
NC_000014.8:g.51323714T>G , CM000676.1:g.51323714T>G	GRCh37
NC_000014.7:g.50393464T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_943848.1:n.282+1102A>C
XR_943848.2:n.643+1102A>C