Revel Score:
ENST00000360774 (MANE Select)
0.105
ENST00000451710
0.105
ENST00000449912
0.105
ENST00000361255
0.105
ENST00000376864
0.105
ENST00000312449
0.105
ENST00000448641
0.105
gnomAD v2:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.74762494C>A , CM000671.2:g.74762494C>A | GRCh38 |
| NC_000009.11:g.77377410C>A , CM000671.1:g.77377410C>A | GRCh37 |
| NC_000009.10:g.76567230C>A | NCBI36 |
| NG_017036.1:g.130601G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360774.6:c.4177G>T MANE Select | ENSP00000354006.1:p.Val1393Phe | |
| ENST00000360774.5:c.4177G>T | ENSP00000354006.1:p.Val1393Phe | |
| ENST00000361255.7:c.4162G>T | ENSP00000354962.3:p.Val1388Phe | |
| ENST00000449912.6:c.4162G>T | ENSP00000396672.2:p.Val1388Phe | |
| NM_001177310.1:c.4162G>T | NP_001170781.1:p.Val1388Phe | |
| NM_001177311.1:c.4162G>T | NP_001170782.1:p.Val1388Phe | |
| NM_017662.4:c.4177G>T | NP_060132.3:p.Val1393Phe | |
| XM_011518244.1:c.4177G>T | XP_011516546.1:p.Val1393Phe | |
| XM_011518245.1:c.4084G>T | XP_011516547.1:p.Val1362Phe | |
| XM_011518246.1:c.4177G>T | XP_011516548.1:p.Val1393Phe | |
| XM_011518247.1:c.4048G>T | XP_011516549.1:p.Val1350Phe | |
| XM_011518248.1:c.4036G>T | XP_011516550.1:p.Val1346Phe | |
| XM_011518249.1:c.3943G>T | XP_011516551.1:p.Val1315Phe | |
| XM_011518250.1:c.3901G>T | XP_011516552.1:p.Val1301Phe | |
| XM_011518251.1:c.3448G>T | XP_011516553.1:p.Val1150Phe | |
| XM_011518252.1:c.4177G>T | XP_011516554.1:p.Val1393Phe | |
| XM_011518253.1:c.2110G>T | XP_011516555.1:p.Val704Phe | |
| XR_929716.1:n.4415G>T | ||
| XR_929717.1:n.4415G>T | ||
| XM_011518251.2:c.3448G>T | XP_011516553.1:p.Val1150Phe | |
| XM_011518252.2:c.4177G>T | XP_011516554.1:p.Val1393Phe | |
| XM_017014287.1:c.3814G>T | XP_016869776.1:p.Val1272Phe | |
| XM_017014288.1:c.3667G>T | XP_016869777.1:p.Val1223Phe | |
| XM_017014289.1:c.4177G>T | XP_016869778.1:p.Val1393Phe | |
| XR_001746185.1:n.4415G>T | ||
| XR_929717.2:n.4415G>T | ||
| NM_017662.5:c.4177G>T MANE Select | NP_060132.3:p.Val1393Phe | |
| NM_001177310.2:c.4162G>T | NP_001170781.1:p.Val1388Phe | |
| NM_001177311.2:c.4162G>T | NP_001170782.1:p.Val1388Phe |