Transcript | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|
ENST00000359785.5 | c.1858T>C | p.Trp620Arg | missense_variant | 14/21 | - |
ENST00000420377.2 | c.1858T>C | p.Trp620Arg | missense_variant | 14/20 | - |
ENST00000460620.1 | c.469-15292T>C | - | intron_variant | - | 6/7 |
ENST00000484147.1 | n.1899T>C | - | non_coding_transcript_exon_variant | 14/16 | - |
ENST00000525799.1 | c.1477T>C | p.Trp493Arg | missense_variant | 9/15 | - |
ENST00000528414.1 | c.1693T>C | p.Trp565Arg | missense_variant | 12/19 | - |
ENST00000532224.1 | c.*1136T>C | - | 3_prime_UTR_variant,NMD_transcript_variant | 10/17 | - |
ENST00000538253.1 | c.1126T>C | p.Trp376Arg | missense_variant | 10/17 | - |
NM_001193431.2 | c.1858T>C | p.Arg620= | synonymous_variant | 14/21 | - |
NM_001308297.1 | c.1786T>C | p.Arg596= | synonymous_variant | 13/20 | - |
NM_012411.5 | c.1693T>C | p.Arg565= | synonymous_variant | 12/19 | - |
NM_015967.7 | c.1858T>C | p.Arg620= | synonymous_variant | 14/21 | - |
NR_125965.1 | n.414+19474A>G | - | intron_variant,non_coding_transcript_variant | - | 3/4 |