Revel Score:
ENST00000374897 (MANE Select)
0.650
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32828974T>G , CM000668.2:g.32828974T>G | GRCh38 |
| NC_000006.11:g.32796751T>G , CM000668.1:g.32796751T>G | GRCh37 |
| NC_000006.10:g.32904729T>G | NCBI36 |
| NG_009793.4:g.14797A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485701.2:n.5922A>C | ||
| ENST00000698440.1:c.1993A>C | ENSP00000513722.1:p.Thr665Pro | |
| ENST00000698441.1:c.1804A>C | ENSP00000513723.1:p.Thr602Pro | |
| ENST00000698448.1:c.1993A>C | ENSP00000513733.1:p.Thr665Pro | |
| ENST00000698449.1:c.2026A>C | ENSP00000513734.1:p.Thr676Pro | |
| ENST00000705716.1:c.1987A>C | ENSP00000516164.1:p.Thr663Pro | |
| ENST00000374897.4:c.1993A>C MANE Select | ENSP00000364032.3:p.Thr665Pro | |
| ENST00000652259.1:c.1932+426A>C | ENSP00000498827.1:n.1932+426A>C | |
| ENST00000374897.2:c.1993A>C | ENSP00000364032.2:p.Thr665Pro | |
| ENST00000374899.8:c.1932+426A>C | ENSP00000364034.4:n.1932+426A>C | |
| ENST00000452392.2:c.1932+426A>C | ENSP00000391806.2:n.1932+426A>C | |
| ENST00000464100.1:n.819A>C | ||
| ENST00000620123.4:c.1993A>C | ENSP00000481712.1:p.Thr665Pro | |
| NM_001290043.1:c.1993A>C | NP_001276972.1:p.Thr665Pro | |
| NM_018833.2:c.1932+426A>C | NP_061313.2:n.1932+426A>C | |
| NM_001290043.2:c.1993A>C MANE Select | NP_001276972.1:p.Thr665Pro | |
| NM_018833.3:c.1932+426A>C | NP_061313.2:n.1932+426A>C |