Revel Score:
ENST00000540217
0.631
ENST00000334049 (MANE Select)
0.631
ENST00000535121
0.631
ENST00000269162
0.631
ENST00000423027 (MANE Plus Clinical)
0.631
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.11824933G>A , CM000680.2:g.11824933G>A | GRCh38 |
| NC_000018.9:g.11824932G>A , CM000680.1:g.11824932G>A | GRCh37 |
| NC_000018.8:g.11814932G>A | NCBI36 |
| NG_033866.1:g.140919G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334049.11:c.640G>A MANE Select | ENSP00000334051.5:p.Val214Met | |
| ENST00000423027.8:c.409G>A MANE Plus Clinical | ENSP00000408489.2:p.Val137Met | |
| ENST00000269162.9:c.409G>A | ENSP00000269162.4:p.Val137Met | |
| ENST00000334049.10:c.640G>A | ENSP00000334051.5:p.Val214Met | |
| ENST00000423027.7:c.409G>A | ENSP00000408489.2:p.Val137Met | |
| ENST00000535121.5:c.409G>A | ENSP00000439023.1:p.Val137Met | |
| ENST00000585642.5:c.226G>A | ENSP00000467345.1:p.Val76Met | |
| ENST00000590228.1:c.121G>A | ENSP00000467709.1:p.Val41Met | |
| ENST00000590972.1:n.233G>A | ||
| NM_001142339.2:c.409G>A | NP_001135811.1:p.Val137Met | |
| NM_001261443.1:c.409G>A | NP_001248372.1:p.Val137Met | |
| NM_182978.3:c.640G>A | NP_892023.1:p.Val214Met | |
| XM_006722323.2:c.409G>A | XP_006722386.1:p.Val137Met | |
| XM_006722324.1:c.640G>A | XP_006722387.1:p.Val214Met | |
| XM_011525654.1:c.409G>A | XP_011523956.1:p.Val137Met | |
| XM_006722324.3:c.640G>A | XP_006722387.1:p.Val214Met | |
| XM_024451164.1:c.409G>A | XP_024306932.1:p.Val137Met | |
| NM_182978.4:c.640G>A MANE Select | NP_892023.1:p.Val214Met | |
| NM_001369387.1:c.409G>A MANE Plus Clinical | NP_001356316.1:p.Val137Met | |
| NM_001142339.3:c.409G>A | NP_001135811.1:p.Val137Met | |
| NM_001261443.2:c.409G>A | NP_001248372.1:p.Val137Met |