Canonical Allele Identifier: CA2493232068
Gene:

Linked Data

dbSNP Id: rs1353967007

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20485645C>G , CM000664.2:g.20485645C>G GRCh38
NC_000002.11:g.20685406C>G , CM000664.1:g.20685406C>G GRCh37
NC_000002.10:g.20548887C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_157978.1:n.530+3093G>C