Revel Score:
ENST00000277541
0.294
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136503288C>A , CM000671.2:g.136503288C>A | GRCh38 |
| NC_000009.11:g.139397740C>A , CM000671.1:g.139397740C>A | GRCh37 |
| NC_000009.10:g.138517561C>A | NCBI36 |
| NG_007458.1:g.47499G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2868G>T | ||
| ENST00000651671.1:c.5061G>T MANE Select | ENSP00000498587.1:p.Gln1687His | |
| ENST00000679595.1:c.5061G>T | ENSP00000506241.1:p.Gln1687His | |
| ENST00000680133.1:c.4947G>T | ENSP00000505319.1:p.Gln1649His | |
| ENST00000680218.1:c.4941G>T | ENSP00000505339.1:p.Gln1647His | |
| ENST00000680668.1:c.4947G>T | ENSP00000506336.1:p.Gln1649His | |
| ENST00000680778.1:c.2658G>T | ENSP00000506033.1:p.Gln886His | |
| ENST00000680924.1:c.*2461G>T | ENSP00000506031.1:n.*2461G>T | |
| ENST00000681135.1:c.*2670G>T | ENSP00000506636.1:n.*2670G>T | |
| ENST00000681298.1:n.1874G>T | ||
| ENST00000681454.1:c.*4297G>T | ENSP00000505763.1:n.*4297G>T | |
| ENST00000277541.6:c.5061G>T | ENSP00000277541.6:p.Gln1687His | |
| ENST00000494783.1:n.216G>T | ||
| NM_017617.3:c.5061G>T | NP_060087.3:p.Gln1687His | |
| XM_011518717.1:c.4362G>T | XP_011517019.1:p.Gln1454His | |
| NM_017617.5:c.5061G>T MANE Select | NP_060087.3:p.Gln1687His | |
| XM_011518717.2:c.4338G>T | XP_011517019.2:p.Gln1446His |