Canonical Allele Identifier: CA2718131184
Gene:

Linked Data

dbSNP Id: rs1459893434

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478370G>C , CM000670.2:g.125478370G>C GRCh38
NC_000008.10:g.126490612G>C , CM000670.1:g.126490612G>C GRCh37
NC_000008.9:g.126559794G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5056G>C