Canonical Allele Identifier: CA175154008
Gene:

Linked Data

dbSNP Id: rs749485446
gnomAD v2: 8-33665859-C-G
gnomAD v3: 8-33808341-C-G
gnomAD v4: 8-33808341-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808341C>G , CM000670.2:g.33808341C>G GRCh38
NC_000008.10:g.33665859C>G , CM000670.1:g.33665859C>G GRCh37
NC_000008.9:g.33785401C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949659.1:n.240+11905C>G
XR_002956701.1:n.240+11905C>G