Revel Score:
ENST00000330315
0.940
ENST00000542203
0.940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946412T>A , CM000665.2:g.138946412T>A | GRCh38 |
| NC_000003.11:g.138665254T>A , CM000665.1:g.138665254T>A | GRCh37 |
| NC_000003.10:g.140147944T>A | NCBI36 |
| NG_012454.1:g.5729A>T | |
| NG_029796.1:g.4179T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.311A>T MANE Select | ENSP00000497217.1:p.His104Leu | |
| ENST00000330315.3:c.311A>T | ENSP00000333188.3:p.His104Leu | |
| NM_023067.3:c.311A>T | NP_075555.1:p.His104Leu | |
| NM_023067.4:c.311A>T MANE Select | NP_075555.1:p.His104Leu |