Canonical Allele Identifier: CA2664003119
Gene:

Linked Data

gnomAD v4: 2-240868463-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868463C>T , CM000664.2:g.240868463C>T GRCh38
NC_000002.11:g.241807880C>T , CM000664.1:g.241807880C>T GRCh37
NC_000002.10:g.241456553C>T NCBI36
NG_008005.1:g.4719C>T

Transcript Alleles

HGVS Amino-acid Change
XR_924060.1:n.405+1770G>A
Search 100 bp 5'
Search 100 bp 3'