Revel Score:
ENST00000277541
0.967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136505776A>T , CM000671.2:g.136505776A>T | GRCh38 |
| NC_000009.11:g.139400228A>T , CM000671.1:g.139400228A>T | GRCh37 |
| NC_000009.10:g.138520049A>T | NCBI36 |
| NG_007458.1:g.45011T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.1927T>A | ||
| ENST00000651671.1:c.4120T>A MANE Select | ENSP00000498587.1:p.Cys1374Ser | |
| ENST00000679595.1:c.4120T>A | ENSP00000506241.1:p.Cys1374Ser | |
| ENST00000680133.1:c.4006T>A | ENSP00000505319.1:p.Cys1336Ser | |
| ENST00000680218.1:c.4000T>A | ENSP00000505339.1:p.Cys1334Ser | |
| ENST00000680668.1:c.4006T>A | ENSP00000506336.1:p.Cys1336Ser | |
| ENST00000680778.1:c.1717T>A | ENSP00000506033.1:p.Cys573Ser | |
| ENST00000680924.1:c.*1520T>A | ENSP00000506031.1:n.*1520T>A | |
| ENST00000681135.1:c.*1729T>A | ENSP00000506636.1:n.*1729T>A | |
| ENST00000681298.1:n.933T>A | ||
| ENST00000681454.1:c.*3356T>A | ENSP00000505763.1:n.*3356T>A | |
| ENST00000277541.6:c.4120T>A | ENSP00000277541.6:p.Cys1374Ser | |
| NM_017617.3:c.4120T>A | NP_060087.3:p.Cys1374Ser | |
| XM_011518717.1:c.3421T>A | XP_011517019.1:p.Cys1141Ser | |
| NM_017617.5:c.4120T>A MANE Select | NP_060087.3:p.Cys1374Ser | |
| XM_011518717.2:c.3397T>A | XP_011517019.2:p.Cys1133Ser |