Revel Score:
ENST00000277541
0.952
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136505776A>C , CM000671.2:g.136505776A>C | GRCh38 |
| NC_000009.11:g.139400228A>C , CM000671.1:g.139400228A>C | GRCh37 |
| NC_000009.10:g.138520049A>C | NCBI36 |
| NG_007458.1:g.45011T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.1927T>G | ||
| ENST00000651671.1:c.4120T>G MANE Select | ENSP00000498587.1:p.Cys1374Gly | |
| ENST00000679595.1:c.4120T>G | ENSP00000506241.1:p.Cys1374Gly | |
| ENST00000680133.1:c.4006T>G | ENSP00000505319.1:p.Cys1336Gly | |
| ENST00000680218.1:c.4000T>G | ENSP00000505339.1:p.Cys1334Gly | |
| ENST00000680668.1:c.4006T>G | ENSP00000506336.1:p.Cys1336Gly | |
| ENST00000680778.1:c.1717T>G | ENSP00000506033.1:p.Cys573Gly | |
| ENST00000680924.1:c.*1520T>G | ENSP00000506031.1:n.*1520T>G | |
| ENST00000681135.1:c.*1729T>G | ENSP00000506636.1:n.*1729T>G | |
| ENST00000681298.1:n.933T>G | ||
| ENST00000681454.1:c.*3356T>G | ENSP00000505763.1:n.*3356T>G | |
| ENST00000277541.6:c.4120T>G | ENSP00000277541.6:p.Cys1374Gly | |
| NM_017617.3:c.4120T>G | NP_060087.3:p.Cys1374Gly | |
| XM_011518717.1:c.3421T>G | XP_011517019.1:p.Cys1141Gly | |
| NM_017617.5:c.4120T>G MANE Select | NP_060087.3:p.Cys1374Gly | |
| XM_011518717.2:c.3397T>G | XP_011517019.2:p.Cys1133Gly |