Revel Score:
ENST00000394936 (MANE Select)
0.976
ENST00000373120
0.976
ENST00000357471
0.976
ENST00000394934
0.976
ENST00000394929
0.976
ENST00000404083
0.976
ENST00000394940
0.976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71819761C>A , CM000672.2:g.71819761C>A | GRCh38 |
| NC_000010.10:g.73579518C>A , CM000672.1:g.73579518C>A | GRCh37 |
| NC_000010.9:g.73249524C>A | NCBI36 |
| NG_009301.1:g.36565G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.1145G>T MANE Select | ENSP00000378394.3:p.Cys382Phe | |
| ENST00000394934.4:c.1154G>T | ENSP00000378392.2:p.Cys385Phe | |
| ENST00000394936.7:c.1145G>T | ENSP00000378394.3:p.Cys382Phe | |
| ENST00000493143.1:n.566G>T | ||
| ENST00000610929.3:c.293G>T | ENSP00000480857.1:p.Cys98Phe | |
| NM_001042465.1:c.1154G>T | NP_001035930.1:p.Cys385Phe | |
| NM_001042466.1:c.1151G>T | NP_001035931.1:p.Cys384Phe | |
| NM_002778.2:c.1145G>T | NP_002769.1:p.Cys382Phe | |
| NM_001042465.2:c.1154G>T | NP_001035930.1:p.Cys385Phe | |
| NM_001042466.2:c.1151G>T | NP_001035931.1:p.Cys384Phe | |
| NM_002778.3:c.1145G>T | NP_002769.1:p.Cys382Phe | |
| NM_002778.4:c.1145G>T MANE Select | NP_002769.1:p.Cys382Phe | |
| NM_001042465.3:c.1154G>T | NP_001035930.1:p.Cys385Phe | |
| NM_001042466.3:c.1151G>T | NP_001035931.1:p.Cys384Phe |