Revel Score:
ENST00000264167 (MANE Select)
0.289
ENST00000409888
0.289
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177392983C>T , CM000664.2:g.177392983C>T | GRCh38 |
| NC_000002.11:g.178257711C>T , CM000664.1:g.178257711C>T | GRCh37 |
| NC_000002.10:g.177965957C>T | NCBI36 |
| NG_008968.1:g.5241C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264167.11:c.194C>T MANE Select | ENSP00000264167.4:p.Ser65Leu | |
| ENST00000460342.2:n.236C>T | ||
| ENST00000637633.2:c.194C>T | ENSP00000490844.2:p.Ser65Leu | |
| ENST00000642466.2:c.194C>T | ENSP00000494433.2:p.Ser65Leu | |
| ENST00000679421.1:n.224C>T | ||
| ENST00000679459.1:c.194C>T | ENSP00000506137.1:p.Ser65Leu | |
| ENST00000680677.1:n.224C>T | ||
| ENST00000680705.1:n.238C>T | ||
| ENST00000680770.1:c.194C>T | ENSP00000505536.1:p.Ser65Leu | |
| ENST00000680893.1:c.194C>T | ENSP00000505929.1:p.Ser65Leu | |
| ENST00000680910.1:n.224C>T | ||
| ENST00000681032.1:c.194C>T | ENSP00000505205.1:p.Ser65Leu | |
| ENST00000681565.1:c.194C>T | ENSP00000505620.1:p.Ser65Leu | |
| ENST00000681752.1:c.194C>T | ENSP00000504994.1:p.Ser65Leu | |
| ENST00000264167.8:c.194C>T | ENSP00000264167.4:p.Ser65Leu | |
| ENST00000409888.1:c.194C>T | ENSP00000386688.1:p.Ser65Leu | |
| NM_003659.3:c.194C>T | NP_003650.1:p.Ser65Leu | |
| XM_011512044.1:c.194C>T | XP_011510346.1:p.Ser65Leu | |
| XM_011512045.1:c.194C>T | XP_011510347.1:p.Ser65Leu | |
| XR_001739007.2:n.211C>T | ||
| NM_003659.4:c.194C>T MANE Select | NP_003650.1:p.Ser65Leu |