Revel Score:
ENST00000265132 (MANE Select)
0.012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114078205C>T , CM000671.2:g.114078205C>T | GRCh38 |
| NC_000009.11:g.116840485C>T , CM000671.1:g.116840485C>T | GRCh37 |
| NC_000009.10:g.115880306C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265132.8:c.5G>A MANE Select | ENSP00000265132.3:p.Arg2Lys | |
| ENST00000265132.7:c.5G>A | ENSP00000265132.3:p.Arg2Lys | |
| ENST00000603230.1:c.5G>A | ENSP00000474859.1:p.Arg2Lys | |
| NM_001633.3:c.5G>A | NP_001624.1:p.Arg2Lys | |
| NM_001633.4:c.5G>A MANE Select | NP_001624.1:p.Arg2Lys |