Revel Score:
ENST00000511370
0.078
ENST00000415165
0.477
ENST00000295897 (MANE Select)
0.577
ENST00000503124
0.577
ENST00000509063
0.577
ENST00000401494
0.577
ENST00000430202
0.577
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73411996G>T , CM000666.2:g.73411996G>T | GRCh38 |
| NC_000004.11:g.74277713G>T , CM000666.1:g.74277713G>T | GRCh37 |
| NC_000004.10:g.74496577G>T | NCBI36 |
| NG_009291.1:g.12742G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.714G>T MANE Select | ENSP00000295897.4:p.Trp238Cys | |
| ENST00000295897.8:c.714G>T | ENSP00000295897.4:p.Trp238Cys | |
| ENST00000401494.7:c.369G>T | ENSP00000384695.3:p.Trp123Cys | |
| ENST00000415165.6:c.138G>T | ENSP00000401820.2:p.Leu46Phe | |
| ENST00000476441.6:c.311G>T | ENSP00000423727.1:p.Gly104Val | |
| ENST00000503124.5:c.264G>T | ENSP00000421027.1:p.Trp88Cys | |
| ENST00000505649.5:n.400G>T | ||
| ENST00000507673.1:n.31G>T | ||
| ENST00000509063.5:c.714G>T | ENSP00000422784.1:p.Trp238Cys | |
| ENST00000511370.1:c.247G>T | ||
| ENST00000621085.4:c.490+2634G>T | ENSP00000483421.1:n.490+2634G>T | |
| ENST00000621628.4:c.486+2920G>T | ENSP00000480485.1:n.486+2920G>T | |
| NM_000477.5:c.714G>T | NP_000468.1:p.Trp238Cys | |
| NM_000477.6:c.714G>T | NP_000468.1:p.Trp238Cys | |
| NM_000477.7:c.714G>T MANE Select | NP_000468.1:p.Trp238Cys |