Canonical Allele Identifier: CA2664003134
Gene:

Linked Data

gnomAD v4: 2-240868473-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868473C>A , CM000664.2:g.240868473C>A GRCh38
NC_000002.11:g.241807890C>A , CM000664.1:g.241807890C>A GRCh37
NC_000002.10:g.241456563C>A NCBI36
NG_008005.1:g.4729C>A

Transcript Alleles

HGVS Amino-acid Change
XR_924060.1:n.405+1760G>T
Search 100 bp 5'
Search 100 bp 3'