Canonical Allele Identifier: CA963063573
Gene:

Linked Data

dbSNP Id: rs2045893889
gnomAD v3: 14-50856961-C-T
gnomAD v4: 14-50856961-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50856961C>T , CM000676.2:g.50856961C>T GRCh38
NC_000014.8:g.51323679C>T , CM000676.1:g.51323679C>T GRCh37
NC_000014.7:g.50393429C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943848.1:n.282+1137G>A
XR_943848.2:n.643+1137G>A
Search 100 bp 5'
Search 100 bp 3'