Revel Score:
ENST00000359526 (MANE Select)
0.282
ENST00000540357
0.282
ENST00000340748
0.282
ENST00000541266
0.282
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10149635T>G , CM000681.2:g.10149635T>G | GRCh38 |
| NC_000019.9:g.10260311T>G , CM000681.1:g.10260311T>G | GRCh37 |
| NC_000019.8:g.10121311T>G | NCBI36 |
| NG_028016.3:g.86652A>C , LRG_362:g.86652A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.2404A>C MANE Select | ENSP00000352516.3:p.Ser802Arg | |
| ENST00000586667.2:n.439A>C | ||
| ENST00000676604.1:n.2016A>C | ||
| ENST00000676610.1:c.2356A>C | ENSP00000504236.1:p.Ser786Arg | |
| ENST00000676820.1:n.2412A>C | ||
| ENST00000676868.1:n.3040A>C | ||
| ENST00000677013.1:c.*2046A>C | ENSP00000503135.1:n.*2046A>C | |
| ENST00000677250.1:c.*1476A>C | ENSP00000502894.1:n.*1476A>C | |
| ENST00000677616.1:c.2047A>C | ENSP00000503055.1:p.Ser683Arg | |
| ENST00000677634.1:c.2356A>C | ENSP00000504246.1:p.Ser786Arg | |
| ENST00000677685.1:c.*1581A>C | ENSP00000503407.1:n.*1581A>C | |
| ENST00000677783.1:n.2826A>C | ||
| ENST00000677946.1:c.2356A>C | ENSP00000504202.1:p.Ser786Arg | |
| ENST00000678024.1:n.2499A>C | ||
| ENST00000678647.1:n.489A>C | ||
| ENST00000678694.1:n.1677A>C | ||
| ENST00000678804.1:c.2356A>C | ENSP00000503853.1:p.Ser786Arg | |
| ENST00000679100.1:n.543A>C | ||
| ENST00000679103.1:c.2356A>C | ENSP00000503151.1:p.Ser786Arg | |
| ENST00000679313.1:c.2356A>C | ENSP00000504512.1:p.Ser786Arg | |
| ENST00000340748.8:c.2356A>C | ENSP00000345739.3:p.Ser786Arg | |
| ENST00000359526.8:c.2404A>C | ENSP00000352516.3:p.Ser802Arg | |
| ENST00000540357.5:c.1348A>C | ENSP00000440457.2:p.Ser450Arg | |
| ENST00000586667.1:n.439A>C | ||
| ENST00000592705.5:c.*2094A>C | ENSP00000466657.1:n.*2094A>C | |
| NM_001130823.1:c.2404A>C , LRG_362t1:c.2404A>C | NP_001124295.1:p.Ser802Arg | |
| NM_001379.2:c.2356A>C | NP_001370.1:p.Ser786Arg | |
| XM_011527772.1:c.2404A>C | XP_011526074.1:p.Ser802Arg | |
| XM_011527773.1:c.2356A>C | XP_011526075.1:p.Ser786Arg | |
| XM_011527774.1:c.1993A>C | XP_011526076.1:p.Ser665Arg | |
| NM_001130823.2:c.2404A>C | NP_001124295.1:p.Ser802Arg | |
| NM_001318730.1:c.2356A>C | NP_001305659.1:p.Ser786Arg | |
| NM_001318731.1:c.2041A>C | NP_001305660.1:p.Ser681Arg | |
| NM_001379.3:c.2356A>C | NP_001370.1:p.Ser786Arg | |
| NM_001130823.3:c.2404A>C MANE Select | NP_001124295.1:p.Ser802Arg | |
| NM_001318730.2:c.2356A>C | NP_001305659.1:p.Ser786Arg | |
| NM_001318731.2:c.2041A>C | NP_001305660.1:p.Ser681Arg | |
| NM_001379.4:c.2356A>C | NP_001370.1:p.Ser786Arg |