Revel Score:
ENST00000358273 (MANE Select)
0.397
ENST00000356175
0.397
ENST00000456735
0.397
ENST00000444181
0.397
ENST00000417592
0.397
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31343053G>T , CM000679.2:g.31343053G>T | GRCh38 |
| NC_000017.10:g.29670071G>T , CM000679.1:g.29670071G>T | GRCh37 |
| NC_000017.9:g.26694197G>T | NCBI36 |
| NG_009018.1:g.253077G>T , LRG_214:g.253077G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.7089G>T | ENSP00000512431.1:p.Trp2363Cys | |
| ENST00000684826.1:c.1671G>T | ENSP00000509994.1:p.Trp557Cys | |
| ENST00000687027.1:c.1263G>T | ENSP00000508715.1:p.Trp421Cys | |
| ENST00000687863.1:n.3752G>T | ||
| ENST00000689464.1:c.46G>T | ||
| ENST00000691014.1:c.7137G>T | ENSP00000510595.1:p.Trp2379Cys | |
| ENST00000693617.1:c.1671G>T | ENSP00000510031.1:p.Trp557Cys | |
| ENST00000358273.9:c.7107G>T MANE Select | ENSP00000351015.4:p.Trp2369Cys | |
| ENST00000356175.7:c.7044G>T | ENSP00000348498.3:p.Trp2348Cys | |
| ENST00000358273.8:c.7107G>T | ENSP00000351015.4:p.Trp2369Cys | |
| ENST00000456735.6:c.6042G>T | ENSP00000389907.2:p.Trp2014Cys | |
| ENST00000471572.6:c.490G>T | ||
| ENST00000579081.5:c.7243G>T | ENSP00000462408.1:n.7243G>T | |
| ENST00000581790.5:c.250G>T | ||
| ENST00000582892.1:n.349G>T | ||
| ENST00000584328.1:n.521G>T | ||
| NM_000267.3:c.7044G>T , LRG_214t1:c.7044G>T | NP_000258.1:p.Trp2348Cys | |
| NM_001042492.2:c.7107G>T , LRG_214t2:c.7107G>T | NP_001035957.1:p.Trp2369Cys | |
| XM_005257983.1:c.7107G>T | XP_005258040.1:p.Trp2369Cys | |
| XM_005257984.1:c.7044G>T | XP_005258041.1:p.Trp2348Cys | |
| XM_006721922.1:c.7137G>T | XP_006721985.1:p.Trp2379Cys | |
| XM_006721923.2:c.7098G>T | XP_006721986.1:p.Trp2366Cys | |
| XM_006721924.1:c.7137G>T | XP_006721987.1:p.Trp2379Cys | |
| XM_006721925.1:c.7074G>T | XP_006721988.1:p.Trp2358Cys | |
| XM_006721926.2:c.7137G>T | XP_006721989.1:p.Trp2379Cys | |
| XM_006721927.1:c.7137G>T | XP_006721990.1:p.Trp2379Cys | |
| XM_011524852.1:c.7134G>T | XP_011523154.1:p.Trp2378Cys | |
| XM_011524853.1:c.7098G>T | XP_011523155.1:p.Trp2366Cys | |
| XM_011524854.1:c.7098G>T | XP_011523156.1:p.Trp2366Cys | |
| XM_011524855.1:c.7098G>T | XP_011523157.1:p.Trp2366Cys | |
| XM_011524856.1:c.7098G>T | XP_011523158.1:p.Trp2366Cys | |
| XM_011524857.1:c.7137G>T | XP_011523159.1:p.Trp2379Cys | |
| NM_001042492.3:c.7107G>T MANE Select | NP_001035957.1:p.Trp2369Cys |