Canonical Allele Identifier: CA849667475
Gene:

Linked Data

dbSNP Id: rs1490791662
gnomAD v3: 8-20734947-A-G
gnomAD v4: 8-20734947-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.20734947A>G , CM000670.2:g.20734947A>G GRCh38
NC_000008.10:g.20592458A>G , CM000670.1:g.20592458A>G GRCh37
NC_000008.9:g.20636738A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949569.3:n.72-55499A>G