Canonical Allele Identifier: CA1581765861
Gene:

Linked Data

dbSNP Id: rs1758561919

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.129387055C>T , CM000667.2:g.129387055C>T GRCh38
NC_000005.9:g.128722748C>T , CM000667.1:g.128722748C>T GRCh37
NC_000005.8:g.128750647C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_427770.2:n.163-1393C>T
XR_948774.1:n.235-5596C>T
XR_001742463.1:n.4089-1393C>T
XR_001742464.1:n.2019-5596C>T
XR_001742465.1:n.401-1393C>T
XR_427770.3:n.337-1393C>T