Canonical Allele Identifier: CA1282456495
Gene:

Linked Data

dbSNP Id: rs564754975

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118079781C>G , CM000664.2:g.118079781C>G GRCh38
NC_000002.11:g.118837357C>G , CM000664.1:g.118837357C>G GRCh37
NC_000002.10:g.118553827C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011512305.1:c.697-2249G>C XP_011510607.1:n.697-2249G>C
XR_001739662.2:n.138+8470G>C