Revel Score:
ENST00000397054
0.032
ENST00000236040
0.032
ENST00000296388 (MANE Select)
0.032
ENST00000540027
0.032
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42750259C>A , CM000663.2:g.42750259C>A | GRCh38 |
| NC_000001.10:g.43215930C>A , CM000663.1:g.43215930C>A | GRCh37 |
| NC_000001.9:g.42988517C>A | NCBI36 |
| NG_008123.1:g.21826G>T , LRG_5:g.21826G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296388.10:c.1647G>T MANE Select | ENSP00000296388.5:p.Met549Ile | |
| ENST00000236040.8:c.1647G>T | ENSP00000236040.4:p.Met549Ile | |
| ENST00000296388.9:c.1647G>T | ENSP00000296388.5:p.Met549Ile | |
| ENST00000397054.7:c.1647G>T | ENSP00000380245.3:p.Met549Ile | |
| ENST00000431412.3:c.569G>T | ||
| ENST00000460031.5:n.1839G>T | ||
| ENST00000481465.3:n.370G>T | ||
| ENST00000495874.5:n.1927G>T | ||
| NM_001146289.1:c.1647G>T , LRG_5t2:c.1647G>T | NP_001139761.1:p.Met549Ile | |
| NM_001243246.1:c.1647G>T , LRG_5t3:c.1647G>T | NP_001230175.1:p.Met549Ile | |
| NM_022356.3:c.1647G>T , LRG_5t1:c.1647G>T | NP_071751.3:p.Met549Ile | |
| XM_005271110.2:c.639G>T | XP_005271167.1:p.Met213Ile | |
| XM_011541947.1:c.672G>T | XP_011540249.1:p.Met224Ile | |
| XM_011541948.1:c.672G>T | XP_011540250.1:p.Met224Ile | |
| XM_011541949.1:c.669G>T | XP_011540251.1:p.Met223Ile | |
| XM_017002051.2:c.672G>T | XP_016857540.1:p.Met224Ile | |
| XM_017002052.2:c.669G>T | XP_016857541.1:p.Met223Ile | |
| XR_946739.2:n.1772G>T | ||
| NM_022356.4:c.1647G>T MANE Select | NP_071751.3:p.Met549Ile | |
| NM_001146289.2:c.1647G>T | NP_001139761.1:p.Met549Ile | |
| NM_001243246.2:c.1647G>T | NP_001230175.1:p.Met549Ile |