Revel Score:
ENST00000349716
0.842
ENST00000310346
0.842
ENST00000405440 (MANE Select)
0.842
ENST00000526441
0.842
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114399574T>A , CM000674.2:g.114399574T>A | GRCh38 |
| NC_000012.11:g.114837379T>A , CM000674.1:g.114837379T>A | GRCh37 |
| NC_000012.10:g.113321762T>A | NCBI36 |
| NG_007373.1:g.13869A>T , LRG_670:g.13869A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405440.7:c.301A>T MANE Select | ENSP00000384152.3:p.Ile101Phe | |
| ENST00000310346.8:c.301A>T | ENSP00000309913.4:p.Ile101Phe | |
| ENST00000349716.9:c.151A>T | ENSP00000337723.5:p.Ile51Phe | |
| ENST00000405440.6:c.301A>T | ENSP00000384152.2:p.Ile101Phe | |
| ENST00000526441.1:c.301A>T | ENSP00000433292.1:p.Ile101Phe | |
| ENST00000552726.1:n.352A>T | ||
| NM_000192.3:c.301A>T , LRG_670t1:c.301A>T | NP_000183.2:p.Ile101Phe | |
| NM_080717.2:c.151A>T | NP_542448.1:p.Ile51Phe | |
| NM_181486.2:c.301A>T | NP_852259.1:p.Ile101Phe | |
| XM_017019912.1:c.349A>T | XP_016875401.1:p.Ile117Phe | |
| NM_080717.3:c.151A>T | NP_542448.1:p.Ile51Phe | |
| NM_181486.4:c.301A>T MANE Select | NP_852259.1:p.Ile101Phe | |
| NM_080717.4:c.151A>T | NP_542448.1:p.Ile51Phe |