Revel Score:
ENST00000344290
0.253
ENST00000262410 (MANE Select)
0.253
ENST00000351559
0.253
ENST00000340799
0.253
ENST00000535772
0.253
ENST00000347967
0.253
ENST00000354326
0.253
ENST00000446361
0.253
ENST00000334239
0.253
ENST00000420682
0.253
ENST00000415613
0.253
ENST00000431008
0.253
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46018726A>T , CM000679.2:g.46018726A>T | GRCh38 |
| NC_000017.10:g.44096092A>T , CM000679.1:g.44096092A>T | GRCh37 |
| NC_000017.9:g.41451939A>T | NCBI36 |
| NG_007398.1:g.129316A>T | |
| NG_007398.2:g.129264A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420682.7:c.1019A>T | ENSP00000413056.2:p.Lys340Ile | |
| ENST00000703922.1:c.1019A>T | ENSP00000515557.1:p.Lys340Ile | |
| ENST00000703923.1:c.932A>T | ENSP00000515558.1:p.Lys311Ile | |
| ENST00000703924.1:c.1019A>T | ENSP00000515559.1:p.Lys340Ile | |
| ENST00000703978.1:c.1106A>T | ENSP00000515600.1:p.Lys369Ile | |
| ENST00000703980.1:n.332A>T | ||
| ENST00000703981.1:n.290A>T | ||
| ENST00000703982.1:n.524A>T | ||
| ENST00000262410.10:c.2282A>T MANE Select | ENSP00000262410.6:p.Lys761Ile | |
| ENST00000344290.10:c.1991A>T | ENSP00000340820.6:p.Lys664Ile | |
| ENST00000351559.10:c.1106A>T | ENSP00000303214.7:p.Lys369Ile | |
| ENST00000535772.6:c.926A>T | ENSP00000443028.2:p.Lys309Ile | |
| ENST00000680542.1:c.1019A>T | ENSP00000505258.1:p.Lys340Ile | |
| ENST00000680674.1:c.1055A>T | ENSP00000505478.1:p.Lys352Ile | |
| ENST00000262410.9:c.2057A>T | ENSP00000262410.5:p.Lys686Ile | |
| ENST00000334239.12:c.839A>T | ENSP00000334886.8:p.Lys280Ile | |
| ENST00000340799.9:c.1019A>T | ENSP00000340438.5:p.Lys340Ile | |
| ENST00000344290.9:c.2111A>T | ENSP00000340820.5:p.Lys704Ile | |
| ENST00000351559.9:c.1106A>T | ENSP00000303214.7:p.Lys369Ile | |
| ENST00000415613.6:c.2111A>T | ENSP00000410838.2:p.Lys704Ile | |
| ENST00000420682.6:c.1019A>T | ENSP00000413056.2:p.Lys340Ile | |
| ENST00000431008.7:c.1013A>T | ENSP00000389250.3:p.Lys338Ile | |
| ENST00000446361.7:c.932A>T | ENSP00000408975.3:p.Lys311Ile | |
| ENST00000535772.5:c.1013A>T | ENSP00000443028.1:p.Lys338Ile | |
| ENST00000570299.5:n.885A>T | ||
| ENST00000571987.5:c.2057A>T | ENSP00000458742.1:p.Lys686Ile | |
| ENST00000574436.5:c.1106A>T | ENSP00000460965.1:p.Lys369Ile | |
| ENST00000576518.1:n.6298A>T | ||
| NM_001123066.3:c.2111A>T | NP_001116538.2:p.Lys704Ile | |
| NM_001123067.3:c.1019A>T | NP_001116539.1:p.Lys340Ile | |
| NM_001203251.1:c.926A>T | NP_001190180.1:p.Lys309Ile | |
| NM_001203252.1:c.1013A>T | NP_001190181.1:p.Lys338Ile | |
| NM_005910.5:c.1106A>T | NP_005901.2:p.Lys369Ile | |
| NM_016834.4:c.932A>T | NP_058518.1:p.Lys311Ile | |
| NM_016835.4:c.2057A>T | NP_058519.3:p.Lys686Ile | |
| NM_016841.4:c.839A>T | NP_058525.1:p.Lys280Ile | |
| XM_005257362.3:c.2369A>T | XP_005257419.1:p.Lys790Ile | |
| XM_005257364.3:c.2282A>T | XP_005257421.1:p.Lys761Ile | |
| XM_005257365.3:c.2276A>T | XP_005257422.1:p.Lys759Ile | |
| XM_005257366.2:c.2195A>T | XP_005257423.1:p.Lys732Ile | |
| XM_005257367.3:c.2171A>T | XP_005257424.1:p.Lys724Ile | |
| XM_005257368.3:c.2078A>T | XP_005257425.1:p.Lys693Ile | |
| XM_005257369.3:c.1304A>T | XP_005257426.1:p.Lys435Ile | |
| XM_005257370.3:c.1217A>T | XP_005257427.1:p.Lys406Ile | |
| XM_005257371.3:c.1130A>T | XP_005257428.1:p.Lys377Ile | |
| XM_005257362.4:c.2369A>T | XP_005257419.1:p.Lys790Ile | |
| XM_005257364.4:c.2282A>T | XP_005257421.1:p.Lys761Ile | |
| XM_005257365.4:c.2276A>T | XP_005257422.1:p.Lys759Ile | |
| XM_005257366.3:c.2195A>T | XP_005257423.1:p.Lys732Ile | |
| XM_005257367.4:c.2171A>T | XP_005257424.1:p.Lys724Ile | |
| XM_005257368.4:c.2078A>T | XP_005257425.1:p.Lys693Ile | |
| XM_005257369.4:c.1304A>T | XP_005257426.1:p.Lys435Ile | |
| XM_005257370.4:c.1217A>T | XP_005257427.1:p.Lys406Ile | |
| XM_005257371.4:c.1130A>T | XP_005257428.1:p.Lys377Ile | |
| NM_001203251.2:c.926A>T | NP_001190180.1:p.Lys309Ile | |
| NM_001377265.1:c.2282A>T MANE Select | NP_001364194.1:p.Lys761Ile | |
| NM_001377266.1:c.1991A>T | NP_001364195.1:p.Lys664Ile | |
| NM_001377267.1:c.771+4448A>T | NP_001364196.1:n.771+4448A>T | |
| NM_001377268.1:c.839A>T | NP_001364197.1:p.Lys280Ile | |
| NM_016834.5:c.932A>T | NP_058518.1:p.Lys311Ile | |
| NM_016841.5:c.839A>T | NP_058525.1:p.Lys280Ile | |
| NR_165166.1:n.937A>T | ||
| NM_001123066.4:c.2111A>T | NP_001116538.2:p.Lys704Ile | |
| NM_001123067.4:c.1019A>T | NP_001116539.1:p.Lys340Ile | |
| NM_001203252.2:c.1013A>T | NP_001190181.1:p.Lys338Ile | |
| NM_005910.6:c.1106A>T | NP_005901.2:p.Lys369Ile | |
| NM_016835.5:c.2057A>T | NP_058519.3:p.Lys686Ile |