Revel Score:
ENST00000553106 (MANE Select)
0.857
ENST00000307000
0.857
ENST00000551337
0.857
ENST00000546844
0.857
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102912803C>G , CM000674.2:g.102912803C>G | GRCh38 |
| NC_000012.11:g.103306581C>G , CM000674.1:g.103306581C>G | GRCh37 |
| NC_000012.10:g.101830711C>G | NCBI36 |
| NG_008690.1:g.9800G>C | |
| NG_008690.2:g.50608G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.156G>C MANE Select | ENSP00000448059.1:p.Leu52Phe | |
| ENST00000307000.7:c.141G>C | ENSP00000303500.2:p.Leu47Phe | |
| ENST00000546844.1:c.156G>C | ENSP00000446658.1:p.Leu52Phe | |
| ENST00000548677.2:n.243G>C | ||
| ENST00000548928.1:n.78G>C | ||
| ENST00000549111.5:n.252G>C | ||
| ENST00000550978.6:c.140G>C | ||
| ENST00000551337.5:c.156G>C | ENSP00000447620.1:p.Leu52Phe | |
| ENST00000551988.5:n.245G>C | ||
| ENST00000553106.5:c.156G>C | ENSP00000448059.1:p.Leu52Phe | |
| ENST00000635500.1:n.124G>C | ||
| NM_000277.1:c.156G>C | NP_000268.1:p.Leu52Phe | |
| XM_011538422.1:c.156G>C | XP_011536724.1:p.Leu52Phe | |
| NM_000277.2:c.156G>C | NP_000268.1:p.Leu52Phe | |
| NM_001354304.1:c.156G>C | NP_001341233.1:p.Leu52Phe | |
| XM_017019370.2:c.156G>C | XP_016874859.1:p.Leu52Phe | |
| NM_000277.3:c.156G>C MANE Select | NP_000268.1:p.Leu52Phe | |
| NM_001354304.2:c.156G>C | NP_001341233.1:p.Leu52Phe |