Revel Score:
ENST00000262367 (MANE Select)
0.987
ENST00000543883
0.987
ENST00000382070
0.987
ENST00000323508
0.987
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3731244C>A , CM000678.2:g.3731244C>A | GRCh38 |
| NC_000016.9:g.3781245C>A , CM000678.1:g.3781245C>A | GRCh37 |
| NC_000016.8:g.3721246C>A | NCBI36 |
| NG_009873.1:g.153877G>T | |
| NG_009873.2:g.154470G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5120G>T MANE Select | ENSP00000262367.5:p.Cys1707Phe | |
| ENST00000637492.1:c.7G>T | ||
| ENST00000262367.9:c.5120G>T | ENSP00000262367.5:p.Cys1707Phe | |
| ENST00000382070.7:c.5006G>T | ENSP00000371502.3:p.Cys1669Phe | |
| NM_001079846.1:c.5006G>T | NP_001073315.1:p.Cys1669Phe | |
| NM_004380.2:c.5120G>T | NP_004371.2:p.Cys1707Phe | |
| XM_005255124.3:c.5075G>T | XP_005255181.1:p.Cys1692Phe | |
| XM_005255125.3:c.4703G>T | XP_005255182.1:p.Cys1568Phe | |
| XM_006720848.2:c.4859G>T | XP_006720911.1:p.Cys1620Phe | |
| XM_011522380.1:c.5066G>T | XP_011520682.1:p.Cys1689Phe | |
| XM_011522381.1:c.4367G>T | XP_011520683.1:p.Cys1456Phe | |
| XM_005255124.4:c.5075G>T | XP_005255181.1:p.Cys1692Phe | |
| XM_005255125.4:c.4703G>T | XP_005255182.1:p.Cys1568Phe | |
| XM_006720848.3:c.4859G>T | XP_006720911.1:p.Cys1620Phe | |
| XM_011522381.2:c.4367G>T | XP_011520683.1:p.Cys1456Phe | |
| XM_017022944.1:c.5114G>T | XP_016878433.1:p.Cys1705Phe | |
| NM_004380.3:c.5120G>T MANE Select | NP_004371.2:p.Cys1707Phe |