Revel Score:
ENST00000359526 (MANE Select)
0.285
ENST00000540357
0.285
ENST00000340748
0.285
ENST00000541266
0.285
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10149633G>C , CM000681.2:g.10149633G>C | GRCh38 |
| NC_000019.9:g.10260309G>C , CM000681.1:g.10260309G>C | GRCh37 |
| NC_000019.8:g.10121309G>C | NCBI36 |
| NG_028016.3:g.86654C>G , LRG_362:g.86654C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.2406C>G MANE Select | ENSP00000352516.3:p.Ser802Arg | |
| ENST00000586667.2:n.441C>G | ||
| ENST00000676604.1:n.2018C>G | ||
| ENST00000676610.1:c.2358C>G | ENSP00000504236.1:p.Ser786Arg | |
| ENST00000676820.1:n.2414C>G | ||
| ENST00000676868.1:n.3042C>G | ||
| ENST00000677013.1:c.*2048C>G | ENSP00000503135.1:n.*2048C>G | |
| ENST00000677250.1:c.*1478C>G | ENSP00000502894.1:n.*1478C>G | |
| ENST00000677616.1:c.2049C>G | ENSP00000503055.1:p.Ser683Arg | |
| ENST00000677634.1:c.2358C>G | ENSP00000504246.1:p.Ser786Arg | |
| ENST00000677685.1:c.*1583C>G | ENSP00000503407.1:n.*1583C>G | |
| ENST00000677783.1:n.2828C>G | ||
| ENST00000677946.1:c.2358C>G | ENSP00000504202.1:p.Ser786Arg | |
| ENST00000678024.1:n.2501C>G | ||
| ENST00000678647.1:n.491C>G | ||
| ENST00000678694.1:n.1679C>G | ||
| ENST00000678804.1:c.2358C>G | ENSP00000503853.1:p.Ser786Arg | |
| ENST00000679100.1:n.545C>G | ||
| ENST00000679103.1:c.2358C>G | ENSP00000503151.1:p.Ser786Arg | |
| ENST00000679313.1:c.2358C>G | ENSP00000504512.1:p.Ser786Arg | |
| ENST00000340748.8:c.2358C>G | ENSP00000345739.3:p.Ser786Arg | |
| ENST00000359526.8:c.2406C>G | ENSP00000352516.3:p.Ser802Arg | |
| ENST00000540357.5:c.1350C>G | ENSP00000440457.2:p.Ser450Arg | |
| ENST00000586667.1:n.441C>G | ||
| ENST00000592705.5:c.*2096C>G | ENSP00000466657.1:n.*2096C>G | |
| NM_001130823.1:c.2406C>G , LRG_362t1:c.2406C>G | NP_001124295.1:p.Ser802Arg | |
| NM_001379.2:c.2358C>G | NP_001370.1:p.Ser786Arg | |
| XM_011527772.1:c.2406C>G | XP_011526074.1:p.Ser802Arg | |
| XM_011527773.1:c.2358C>G | XP_011526075.1:p.Ser786Arg | |
| XM_011527774.1:c.1995C>G | XP_011526076.1:p.Ser665Arg | |
| NM_001130823.2:c.2406C>G | NP_001124295.1:p.Ser802Arg | |
| NM_001318730.1:c.2358C>G | NP_001305659.1:p.Ser786Arg | |
| NM_001318731.1:c.2043C>G | NP_001305660.1:p.Ser681Arg | |
| NM_001379.3:c.2358C>G | NP_001370.1:p.Ser786Arg | |
| NM_001130823.3:c.2406C>G MANE Select | NP_001124295.1:p.Ser802Arg | |
| NM_001318730.2:c.2358C>G | NP_001305659.1:p.Ser786Arg | |
| NM_001318731.2:c.2043C>G | NP_001305660.1:p.Ser681Arg | |
| NM_001379.4:c.2358C>G | NP_001370.1:p.Ser786Arg |