Canonical Allele Identifier: CA760016751
Gene:

Linked Data

dbSNP Id: rs1226708119

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.16458347T>C , CM000664.2:g.16458347T>C GRCh38
NC_000002.11:g.16639615T>C , CM000664.1:g.16639615T>C GRCh37
NC_000002.10:g.16503096T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939752.1:n.396-3253A>G