Revel Score:
ENST00000262367 (MANE Select)
0.743
ENST00000543883
0.743
ENST00000382070
0.743
ENST00000323508
0.743
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729681T>A , CM000678.2:g.3729681T>A | GRCh38 |
| NC_000016.9:g.3779682T>A , CM000678.1:g.3779682T>A | GRCh37 |
| NC_000016.8:g.3719683T>A | NCBI36 |
| NG_009873.1:g.155440A>T | |
| NG_009873.2:g.156033A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5366A>T MANE Select | ENSP00000262367.5:p.Asn1789Ile | |
| ENST00000262367.9:c.5366A>T | ENSP00000262367.5:p.Asn1789Ile | |
| ENST00000382070.7:c.5252A>T | ENSP00000371502.3:p.Asn1751Ile | |
| NM_001079846.1:c.5252A>T | NP_001073315.1:p.Asn1751Ile | |
| NM_004380.2:c.5366A>T | NP_004371.2:p.Asn1789Ile | |
| XM_005255124.3:c.5321A>T | XP_005255181.1:p.Asn1774Ile | |
| XM_005255125.3:c.4949A>T | XP_005255182.1:p.Asn1650Ile | |
| XM_006720848.2:c.5105A>T | XP_006720911.1:p.Asn1702Ile | |
| XM_011522380.1:c.5312A>T | XP_011520682.1:p.Asn1771Ile | |
| XM_011522381.1:c.4613A>T | XP_011520683.1:p.Asn1538Ile | |
| XM_005255124.4:c.5321A>T | XP_005255181.1:p.Asn1774Ile | |
| XM_005255125.4:c.4949A>T | XP_005255182.1:p.Asn1650Ile | |
| XM_006720848.3:c.5105A>T | XP_006720911.1:p.Asn1702Ile | |
| XM_011522381.2:c.4613A>T | XP_011520683.1:p.Asn1538Ile | |
| XM_017022944.1:c.5360A>T | XP_016878433.1:p.Asn1787Ile | |
| NM_004380.3:c.5366A>T MANE Select | NP_004371.2:p.Asn1789Ile |