Revel Score:
ENST00000355072 (MANE Select)
0.369
gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3233253G>T , CM000666.2:g.3233253G>T | GRCh38 |
| NC_000004.11:g.3234980G>T , CM000666.1:g.3234980G>T | GRCh37 |
| NC_000004.10:g.3204778G>T | NCBI36 |
| NG_009378.1:g.163579G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355072.11:c.8356G>T MANE Select | ENSP00000347184.5:p.Val2786Phe | |
| ENST00000355072.10:c.8356G>T | ENSP00000347184.5:p.Val2786Phe | |
| ENST00000680239.1:c.8098G>T | ENSP00000506169.1:p.Val2700Phe | |
| ENST00000680360.1:c.*1563G>T | ENSP00000505014.1:n.*1563G>T | |
| ENST00000680956.1:c.8098G>T | ENSP00000506029.1:p.Val2700Phe | |
| ENST00000681528.1:c.8188G>T | ENSP00000506116.1:p.Val2730Phe | |
| ENST00000355072.9:c.8356G>T | ENSP00000347184.5:p.Val2786Phe | |
| ENST00000510626.5:n.9484G>T | ||
| ENST00000513806.1:n.320-2031G>T | ||
| NM_002111.7:c.8362G>T | NP_002102.4:p.Val2788Phe | |
| NM_002111.8:c.8362G>T | NP_002102.4:p.Val2788Phe | |
| NM_001388492.1:c.8356G>T MANE Select | NP_001375421.1:p.Val2786Phe |