Revel Score:
ENST00000355710 (MANE Select)
0.895
ENST00000340058
0.895
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43120163G>C , CM000672.2:g.43120163G>C | GRCh38 |
| NC_000010.10:g.43615611G>C , CM000672.1:g.43615611G>C | GRCh37 |
| NC_000010.9:g.42935617G>C | NCBI36 |
| NG_007489.1:g.48095G>C , LRG_518:g.48095G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2294G>C | ENSP00000480088.2:p.Arg765Pro | |
| ENST00000683007.1:n.2264G>C | ||
| ENST00000683872.1:n.2255G>C | ||
| ENST00000340058.6:c.2690G>C | ENSP00000344798.4:p.Arg897Pro | |
| ENST00000355710.8:c.2690G>C MANE Select | ENSP00000347942.3:p.Arg897Pro | |
| ENST00000671844.1:c.*1284G>C | ENSP00000500541.1:n.*1284G>C | |
| ENST00000672389.1:c.*1284G>C | ENSP00000500252.1:n.*1284G>C | |
| ENST00000340058.5:c.2690G>C | ENSP00000344798.4:p.Arg897Pro | |
| ENST00000355710.7:c.2690G>C | ENSP00000347942.3:p.Arg897Pro | |
| ENST00000615310.4:c.*39G>C | ENSP00000480088.1:n.*39G>C | |
| NM_020630.4:c.2690G>C , LRG_518t2:c.2690G>C | NP_065681.1:p.Arg897Pro | |
| NM_020975.4:c.2690G>C , LRG_518t1:c.2690G>C | NP_066124.1:p.Arg897Pro | |
| XM_011540027.1:c.2690G>C | XP_011538329.1:p.Arg897Pro | |
| NM_001355216.1:c.1928G>C | NP_001342145.1:p.Arg643Pro | |
| NM_020630.5:c.2690G>C | NP_065681.1:p.Arg897Pro | |
| NM_020975.5:c.2690G>C | NP_066124.1:p.Arg897Pro | |
| NM_020975.6:c.2690G>C MANE Select | NP_066124.1:p.Arg897Pro | |
| NM_020630.6:c.2690G>C | NP_065681.1:p.Arg897Pro |