Canonical Allele Identifier: CA851031668
Gene:

Linked Data

dbSNP Id: rs1245306287
gnomAD v3: 8-33808175-A-G
gnomAD v4: 8-33808175-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808175A>G , CM000670.2:g.33808175A>G GRCh38
NC_000008.10:g.33665693A>G , CM000670.1:g.33665693A>G GRCh37
NC_000008.9:g.33785235A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949659.1:n.240+11739A>G
XR_002956701.1:n.240+11739A>G