Revel Score:
ENST00000403665 (MANE Select)
0.896
ENST00000264692
0.896
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284214A>T , CM000666.2:g.186284214A>T | GRCh38 |
| NC_000004.11:g.187205368A>T , CM000666.1:g.187205368A>T | GRCh37 |
| NC_000004.10:g.187442362A>T | NCBI36 |
| NG_008051.1:g.23251A>T , LRG_583:g.23251A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1258A>T MANE Select | ENSP00000384957.2:p.Ile420Phe | |
| ENST00000264692.8:c.1096A>T | ENSP00000264692.5:p.Ile366Phe | |
| ENST00000403665.6:c.1258A>T | ENSP00000384957.2:p.Ile420Phe | |
| NM_000128.3:c.1258A>T , LRG_583t1:c.1258A>T | NP_000119.1:p.Ile420Phe | |
| XM_005262821.2:c.1261A>T | XP_005262878.1:p.Ile421Phe | |
| XM_005262822.2:c.1261A>T | XP_005262879.1:p.Ile421Phe | |
| XM_005262823.2:c.991A>T | XP_005262880.1:p.Ile331Phe | |
| XM_005262824.1:c.1261A>T | XP_005262881.1:p.Ile421Phe | |
| XM_006714137.1:c.1213A>T | XP_006714200.1:p.Ile405Phe | |
| XR_938706.1:n.1666A>T | ||
| XR_938707.1:n.1666A>T | ||
| XM_005262821.4:c.1261A>T | XP_005262878.1:p.Ile421Phe | |
| XM_005262822.4:c.1261A>T | XP_005262879.1:p.Ile421Phe | |
| XM_005262823.4:c.991A>T | XP_005262880.1:p.Ile331Phe | |
| XM_006714137.3:c.1213A>T | XP_006714200.1:p.Ile405Phe | |
| XR_001741172.2:n.1732A>T | ||
| NM_000128.4:c.1258A>T MANE Select | NP_000119.1:p.Ile420Phe |