Canonical Allele Identifier: CA1816081273
Gene:

Linked Data

dbSNP Id: rs952088174

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122395984C>G , CM000670.2:g.122395984C>G GRCh38
NC_000008.10:g.123408223C>G , CM000670.1:g.123408223C>G GRCh37
NC_000008.9:g.123477404C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3188G>C
XR_928599.3:n.152+3188G>C