Transcript | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|
ENST00000227667.3 | c.55C>T | p.Arg19* | stop_gained,splice_region_variant | 2/4 | - |
ENST00000375345.1 | c.109C>T | p.Arg37* | stop_gained,splice_region_variant | 2/4 | - |
ENST00000433777.1 | c.55C>T | p.Arg19* | stop_gained,splice_region_variant | 2/3 | - |
ENST00000470144.1 | n.87C>T | - | splice_region_variant,non_coding_transcript_exon_variant | 2/4 | - |
NM_000040.3 | c.55C>T | p.Arg19* | stop_gained,splice_region_variant | 2/4 | - |