Canonical Allele Identifier: CA2664003136
Gene:

Linked Data

gnomAD v4: 2-240868475-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868475C>T , CM000664.2:g.240868475C>T GRCh38
NC_000002.11:g.241807892C>T , CM000664.1:g.241807892C>T GRCh37
NC_000002.10:g.241456565C>T NCBI36
NG_008005.1:g.4731C>T

Transcript Alleles

HGVS Amino-acid Change
XR_924060.1:n.405+1758G>A
Search 100 bp 5'
Search 100 bp 3'