Canonical Allele Identifier: CA1014783668

Gene:

Linked Data

• dbSNP Id: rs2085112116
• gnomAD v3: 20-2470992-G-A
• gnomAD v4: 20-2470992-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470992G>A , CM000682.2:g.2470992G>A	GRCh38
NC_000020.10:g.2451638G>A , CM000682.1:g.2451638G>A	GRCh37
NC_000020.9:g.2399638G>A	NCBI36
NG_042057.1:g.4862C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461548.1:c.305-3234C>T	ENSP00000456213.1:n.305-3234C>T