Canonical Allele Identifier: CA2403722476
Gene:

Linked Data

dbSNP Id: rs2059867170

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36129752G>T , CM000684.2:g.36129752G>T GRCh38
NC_000022.10:g.36525800G>T , CM000684.1:g.36525800G>T GRCh37
NC_000022.9:g.34855746G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_430441.2:n.1547+3410C>A
XR_938219.1:n.3124+60C>A
XR_938220.1:n.3124+60C>A
XR_938221.1:n.1471+4110C>A
XR_001755516.2:n.4986+60C>A
XR_001755517.2:n.3213+60C>A
XR_001755518.2:n.4986+60C>A
XR_001755519.2:n.4986+60C>A
XR_001755520.2:n.4986+60C>A
XR_001755521.2:n.4986+60C>A
XR_001755522.2:n.1637-1979C>A
XR_001755525.2:n.1637-398C>A
XR_001755526.2:n.1637-1979C>A
XR_430441.4:n.1636+3410C>A