Revel Score:
ENST00000330883
0.892
ENST00000392968
0.892
ENST00000262186 (MANE Select)
0.892
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947493T>A , CM000669.2:g.150947493T>A | GRCh38 |
| NC_000007.13:g.150644581T>A , CM000669.1:g.150644581T>A | GRCh37 |
| NC_000007.12:g.150275514T>A | NCBI36 |
| NG_008916.1:g.35434A>T , LRG_288:g.35434A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3820A>T | ||
| ENST00000262186.10:c.2987A>T MANE Select | ENSP00000262186.5:p.Asn996Ile | |
| ENST00000330883.9:c.1967A>T | ENSP00000328531.4:p.Asn656Ile | |
| ENST00000262186.9:c.2987A>T | ENSP00000262186.5:p.Asn996Ile | |
| ENST00000330883.8:c.1967A>T | ENSP00000328531.4:p.Asn656Ile | |
| NM_000238.3:c.2987A>T , LRG_288t1:c.2987A>T | NP_000229.1:p.Asn996Ile | |
| NM_172057.2:c.1967A>T , LRG_288t3:c.1967A>T | NP_742054.1:p.Asn656Ile | |
| XM_011516185.1:c.2687A>T | XP_011514487.1:p.Asn896Ile | |
| XM_011516186.1:c.*67A>T | XP_011514488.1:n.*67A>T | |
| XM_011516185.2:c.2687A>T | XP_011514487.1:p.Asn896Ile | |
| XM_011516186.3:c.*67A>T | XP_011514488.1:n.*67A>T | |
| XM_017012195.1:c.2837A>T | XP_016867684.1:p.Asn946Ile | |
| XM_017012196.1:c.2810A>T | XP_016867685.1:p.Asn937Ile | |
| NM_000238.4:c.2987A>T MANE Select | NP_000229.1:p.Asn996Ile | |
| NM_172057.3:c.1967A>T | NP_742054.1:p.Asn656Ile |