Revel Score:
ENST00000304611 (MANE Select)
0.895
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42965078C>A , CM000668.2:g.42965078C>A | GRCh38 |
| NC_000006.11:g.42932816C>A , CM000668.1:g.42932816C>A | GRCh37 |
| NC_000006.10:g.43040794C>A | NCBI36 |
| NG_008370.1:g.19166G>T | |
| NG_008396.1:g.9317C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.2663G>T MANE Select | ENSP00000303511.8:p.Arg888Leu | |
| ENST00000244546.4:c.2416G>T | ENSP00000244546.4:n.2416G>T | |
| ENST00000304611.12:c.2663G>T | ENSP00000303511.8:p.Arg888Leu | |
| NM_000287.3:c.2663G>T | NP_000278.3:p.Arg888Leu | |
| NM_001316313.1:c.2399G>T | NP_001303242.1:p.Arg800Leu | |
| NR_133009.1:n.2509G>T | ||
| XM_011514661.1:c.2579G>T | XP_011512963.1:p.Arg860Leu | |
| XM_011514661.2:c.2579G>T | XP_011512963.1:p.Arg860Leu | |
| XR_001743466.2:n.3625G>T | ||
| NM_000287.4:c.2663G>T MANE Select | NP_000278.3:p.Arg888Leu | |
| NM_001316313.2:c.2399G>T | NP_001303242.1:p.Arg800Leu | |
| NR_133009.2:n.2447G>T |