Canonical Allele Identifier: CA337767847
Gene:

Linked Data

dbSNP Id: rs200846014
gnomAD v3: Y-15286828-A-G
gnomAD v4: Y-15286828-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.15286828A>G , CM000686.2:g.15286828A>G GRCh38
NC_000024.9:g.17398708A>G , CM000686.1:g.17398708A>G GRCh37
NC_000024.8:g.15908102A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001756089.1:n.310-39650T>C