Canonical Allele Identifier: CA2651630783
Gene:

Linked Data

gnomAD v4: 20-2471000-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2471000C>T , CM000682.2:g.2471000C>T GRCh38
NC_000020.10:g.2451646C>T , CM000682.1:g.2451646C>T GRCh37
NC_000020.9:g.2399646C>T NCBI36
NG_042057.1:g.4854G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3242G>A ENSP00000456213.1:n.305-3242G>A
Search 100 bp 5'
Search 100 bp 3'