Transcript | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|
ENST00000288602.6 | c.1798G>C | p.Val600Leu | missense_variant | 15/18 | - |
ENST00000479537.1 | c.82G>C | p.Val28Leu | missense_variant,NMD_transcript_variant | 2/6 | - |
ENST00000496384.2 | c.622G>C | p.Val208Leu | missense_variant | 6/10 | - |
ENST00000497784.1 | c.*1248G>C | - | 3_prime_UTR_variant,NMD_transcript_variant | 16/19 | - |
NM_001354609.2 | c.1798G>C | p.Val600Leu | missense_variant | 15/19 | - |
NM_004333.6 | c.1798G>C | p.Val600Leu | missense_variant | 15/18 | - |
NR_148928.2 | n.2897G>C | - | non_coding_transcript_exon_variant | 15/18 | - |