Canonical Allele Identifier: CA175154011
Gene:

Linked Data

dbSNP Id: rs982353383
gnomAD v3: 8-33808342-A-G
gnomAD v4: 8-33808342-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808342A>G , CM000670.2:g.33808342A>G GRCh38
NC_000008.10:g.33665860A>G , CM000670.1:g.33665860A>G GRCh37
NC_000008.9:g.33785402A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949659.1:n.240+11906A>G
XR_002956701.1:n.240+11906A>G