Revel Score:
ENST00000155840 (MANE Select)
0.971
ENST00000335475
0.971
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583538T>A , CM000673.2:g.2583538T>A | GRCh38 |
| NC_000011.9:g.2604768T>A , CM000673.1:g.2604768T>A | GRCh37 |
| NC_000011.8:g.2561344T>A | NCBI36 |
| NG_008935.1:g.143548T>A , LRG_287:g.143548T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.764T>A | ENSP00000434560.2:p.Leu255His | |
| ENST00000646564.2:c.581T>A | ENSP00000495806.2:p.Leu194His | |
| ENST00000155840.12:c.1025T>A MANE Select | ENSP00000155840.2:p.Leu342His | |
| ENST00000335475.6:c.644T>A | ENSP00000334497.5:p.Leu215His | |
| ENST00000646564.1:c.227T>A | ENSP00000495806.1:p.Leu76His | |
| ENST00000155840.9:c.1025T>A | ENSP00000155840.2:p.Leu342His | |
| ENST00000335475.5:c.644T>A | ENSP00000334497.5:p.Leu215His | |
| NM_000218.2:c.1025T>A , LRG_287t1:c.1025T>A | NP_000209.2:p.Leu342His | |
| NM_181798.1:c.644T>A , LRG_287t2:c.644T>A | NP_861463.1:p.Leu215His | |
| NM_000218.3:c.1025T>A MANE Select | NP_000209.2:p.Leu342His |