Revel Score:
ENST00000277541
0.870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504916A>C , CM000671.2:g.136504916A>C | GRCh38 |
| NC_000009.11:g.139399368A>C , CM000671.1:g.139399368A>C | GRCh37 |
| NC_000009.10:g.138519189A>C | NCBI36 |
| NG_007458.1:g.45871T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2582T>G | ||
| ENST00000651671.1:c.4775T>G MANE Select | ENSP00000498587.1:p.Phe1592Cys | |
| ENST00000679595.1:c.4775T>G | ENSP00000506241.1:p.Phe1592Cys | |
| ENST00000680133.1:c.4661T>G | ENSP00000505319.1:p.Phe1554Cys | |
| ENST00000680218.1:c.4655T>G | ENSP00000505339.1:p.Phe1552Cys | |
| ENST00000680668.1:c.4661T>G | ENSP00000506336.1:p.Phe1554Cys | |
| ENST00000680778.1:c.2372T>G | ENSP00000506033.1:p.Phe791Cys | |
| ENST00000680924.1:c.*2175T>G | ENSP00000506031.1:n.*2175T>G | |
| ENST00000681135.1:c.*2384T>G | ENSP00000506636.1:n.*2384T>G | |
| ENST00000681298.1:n.1588T>G | ||
| ENST00000681454.1:c.*4011T>G | ENSP00000505763.1:n.*4011T>G | |
| ENST00000277541.6:c.4775T>G | ENSP00000277541.6:p.Phe1592Cys | |
| NM_017617.3:c.4775T>G | NP_060087.3:p.Phe1592Cys | |
| XM_011518717.1:c.4076T>G | XP_011517019.1:p.Phe1359Cys | |
| NM_017617.5:c.4775T>G MANE Select | NP_060087.3:p.Phe1592Cys | |
| XM_011518717.2:c.4052T>G | XP_011517019.2:p.Phe1351Cys |