Revel Score:
ENST00000277541
0.976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136505775C>A , CM000671.2:g.136505775C>A | GRCh38 |
| NC_000009.11:g.139400227C>A , CM000671.1:g.139400227C>A | GRCh37 |
| NC_000009.10:g.138520048C>A | NCBI36 |
| NG_007458.1:g.45012G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.1928G>T | ||
| ENST00000651671.1:c.4121G>T MANE Select | ENSP00000498587.1:p.Cys1374Phe | |
| ENST00000679595.1:c.4121G>T | ENSP00000506241.1:p.Cys1374Phe | |
| ENST00000680133.1:c.4007G>T | ENSP00000505319.1:p.Cys1336Phe | |
| ENST00000680218.1:c.4001G>T | ENSP00000505339.1:p.Cys1334Phe | |
| ENST00000680668.1:c.4007G>T | ENSP00000506336.1:p.Cys1336Phe | |
| ENST00000680778.1:c.1718G>T | ENSP00000506033.1:p.Cys573Phe | |
| ENST00000680924.1:c.*1521G>T | ENSP00000506031.1:n.*1521G>T | |
| ENST00000681135.1:c.*1730G>T | ENSP00000506636.1:n.*1730G>T | |
| ENST00000681298.1:n.934G>T | ||
| ENST00000681454.1:c.*3357G>T | ENSP00000505763.1:n.*3357G>T | |
| ENST00000277541.6:c.4121G>T | ENSP00000277541.6:p.Cys1374Phe | |
| NM_017617.3:c.4121G>T | NP_060087.3:p.Cys1374Phe | |
| XM_011518717.1:c.3422G>T | XP_011517019.1:p.Cys1141Phe | |
| NM_017617.5:c.4121G>T MANE Select | NP_060087.3:p.Cys1374Phe | |
| XM_011518717.2:c.3398G>T | XP_011517019.2:p.Cys1133Phe |