Revel Score:
ENST00000330883
0.886
ENST00000392968
0.886
ENST00000262186 (MANE Select)
0.886
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948939C>T , CM000669.2:g.150948939C>T | GRCh38 |
| NC_000007.13:g.150646027C>T , CM000669.1:g.150646027C>T | GRCh37 |
| NC_000007.12:g.150276960C>T | NCBI36 |
| NG_008916.1:g.33988G>A , LRG_288:g.33988G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3342G>A | ||
| ENST00000262186.10:c.2509G>A MANE Select | ENSP00000262186.5:p.Asp837Asn | |
| ENST00000330883.9:c.1489G>A | ENSP00000328531.4:p.Asp497Asn | |
| ENST00000262186.9:c.2509G>A | ENSP00000262186.5:p.Asp837Asn | |
| ENST00000330883.8:c.1489G>A | ENSP00000328531.4:p.Asp497Asn | |
| NM_000238.3:c.2509G>A , LRG_288t1:c.2509G>A | NP_000229.1:p.Asp837Asn | |
| NM_172057.2:c.1489G>A , LRG_288t3:c.1489G>A | NP_742054.1:p.Asp497Asn | |
| XM_011516185.1:c.2209G>A | XP_011514487.1:p.Asp737Asn | |
| XM_011516186.1:c.2509G>A | XP_011514488.1:p.Asp837Asn | |
| XM_011516185.2:c.2209G>A | XP_011514487.1:p.Asp737Asn | |
| XM_011516186.3:c.2509G>A | XP_011514488.1:p.Asp837Asn | |
| XM_017012195.1:c.2359G>A | XP_016867684.1:p.Asp787Asn | |
| XM_017012196.1:c.2332G>A | XP_016867685.1:p.Asp778Asn | |
| NM_000238.4:c.2509G>A MANE Select | NP_000229.1:p.Asp837Asn | |
| NM_172057.3:c.1489G>A | NP_742054.1:p.Asp497Asn |