Canonical Allele Identifier: CA2664003131
Gene:

Linked Data

gnomAD v4: 2-240868472-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868472C>A , CM000664.2:g.240868472C>A GRCh38
NC_000002.11:g.241807889C>A , CM000664.1:g.241807889C>A GRCh37
NC_000002.10:g.241456562C>A NCBI36
NG_008005.1:g.4728C>A

Transcript Alleles

HGVS Amino-acid Change
XR_924060.1:n.405+1761G>T
Search 100 bp 5'
Search 100 bp 3'