Canonical Allele Identifier: CA660863723
Gene:

Linked Data

dbSNP Id: rs1316205840

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122458331A>G , CM000672.2:g.122458331A>G GRCh38
NC_000010.10:g.124217847A>G , CM000672.1:g.124217847A>G GRCh37
NC_000010.9:g.124207837A>G NCBI36
NG_011554.1:g.1807A>G
NG_011725.1:g.8669A>G

Transcript Alleles

HGVS Amino-acid Change
XR_946382.1:n.1827+164T>C
XR_946383.1:n.1827+164T>C
XR_946384.1:n.1576+164T>C
XR_946385.1:n.1827+164T>C
XR_946382.2:n.1855+164T>C
XR_946383.2:n.1855+164T>C
XR_946384.2:n.1580+164T>C
XR_946385.2:n.1855+164T>C