Canonical Allele Identifier: CA2493232065
Gene:

Linked Data

dbSNP Id: rs1691635238

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20485639T>C , CM000664.2:g.20485639T>C GRCh38
NC_000002.11:g.20685400T>C , CM000664.1:g.20685400T>C GRCh37
NC_000002.10:g.20548881T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_157978.1:n.530+3099A>G