Canonical Allele Identifier: CA2651630747
Gene:

Linked Data

gnomAD v4: 20-2470960-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470960T>A , CM000682.2:g.2470960T>A GRCh38
NC_000020.10:g.2451606T>A , CM000682.1:g.2451606T>A GRCh37
NC_000020.9:g.2399606T>A NCBI36
NG_042057.1:g.4894A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3202A>T ENSP00000456213.1:n.305-3202A>T