Canonical Allele Identifier: CA2330336220
Gene:

Linked Data

dbSNP Id: rs2011164166

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.28544551G>C , CM000681.2:g.28544551G>C GRCh38
NC_000019.9:g.29035458G>C , CM000681.1:g.29035458G>C GRCh37
NC_000019.8:g.33727298G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_110759.1:n.657-77771C>G
XR_243979.1:n.110-51528C>G