Canonical Allele Identifier: CA337767845
Gene:

Linked Data

dbSNP Id: rs9786420
gnomAD v3: Y-15286718-T-C
gnomAD v4: Y-15286718-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.15286718T>C , CM000686.2:g.15286718T>C GRCh38
NC_000024.9:g.17398598T>C , CM000686.1:g.17398598T>C GRCh37
NC_000024.8:g.15907992T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001756089.1:n.310-39540A>G