Canonical Allele Identifier: CA337629179
Gene:

Linked Data

dbSNP Id: rs16981297
gnomAD v3: Y-8907137-G-A
gnomAD v4: Y-8907137-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8907137G>A , CM000686.2:g.8907137G>A GRCh38
NC_000024.9:g.8775178G>A , CM000686.1:g.8775178G>A GRCh37
NC_000024.8:g.8835178G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000455422.5:n.153G>A