Revel Score:
ENST00000277541
0.964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136505776A>G , CM000671.2:g.136505776A>G | GRCh38 |
| NC_000009.11:g.139400228A>G , CM000671.1:g.139400228A>G | GRCh37 |
| NC_000009.10:g.138520049A>G | NCBI36 |
| NG_007458.1:g.45011T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.1927T>C | ||
| ENST00000651671.1:c.4120T>C MANE Select | ENSP00000498587.1:p.Cys1374Arg | |
| ENST00000679595.1:c.4120T>C | ENSP00000506241.1:p.Cys1374Arg | |
| ENST00000680133.1:c.4006T>C | ENSP00000505319.1:p.Cys1336Arg | |
| ENST00000680218.1:c.4000T>C | ENSP00000505339.1:p.Cys1334Arg | |
| ENST00000680668.1:c.4006T>C | ENSP00000506336.1:p.Cys1336Arg | |
| ENST00000680778.1:c.1717T>C | ENSP00000506033.1:p.Cys573Arg | |
| ENST00000680924.1:c.*1520T>C | ENSP00000506031.1:n.*1520T>C | |
| ENST00000681135.1:c.*1729T>C | ENSP00000506636.1:n.*1729T>C | |
| ENST00000681298.1:n.933T>C | ||
| ENST00000681454.1:c.*3356T>C | ENSP00000505763.1:n.*3356T>C | |
| ENST00000277541.6:c.4120T>C | ENSP00000277541.6:p.Cys1374Arg | |
| NM_017617.3:c.4120T>C | NP_060087.3:p.Cys1374Arg | |
| XM_011518717.1:c.3421T>C | XP_011517019.1:p.Cys1141Arg | |
| NM_017617.5:c.4120T>C MANE Select | NP_060087.3:p.Cys1374Arg | |
| XM_011518717.2:c.3397T>C | XP_011517019.2:p.Cys1133Arg |