Revel Score:
ENST00000379374 (MANE Select)
0.841
ENST00000537599
0.841
ENST00000535894
0.841
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22094005T>C , CM000685.2:g.22094005T>C | GRCh38 |
| NC_000023.10:g.22112123T>C , CM000685.1:g.22112123T>C | GRCh37 |
| NC_000023.9:g.22022044T>C | NCBI36 |
| NG_007563.2:g.66203T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.1181T>C | ||
| ENST00000684143.1:c.752T>C | ENSP00000508264.1:p.Phe251Ser | |
| ENST00000684745.1:n.429T>C | ||
| ENST00000379374.5:c.755T>C MANE Select | ENSP00000368682.4:p.Phe252Ser | |
| ENST00000379374.4:c.755T>C | ENSP00000368682.4:p.Phe252Ser | |
| ENST00000475778.1:n.28T>C | ||
| NM_000444.5:c.755T>C | NP_000435.3:p.Phe252Ser | |
| NM_001282754.1:c.755T>C | NP_001269683.1:p.Phe252Ser | |
| XM_011545533.1:c.-2T>C | XP_011543835.1:n.-2T>C | |
| XM_011545534.1:c.-2T>C | XP_011543836.1:n.-2T>C | |
| XM_011545535.1:c.755T>C | XP_011543837.1:p.Phe252Ser | |
| XM_017029579.1:c.-2T>C | XP_016885068.1:n.-2T>C | |
| XM_024452390.1:c.464T>C | XP_024308158.1:p.Phe155Ser | |
| XR_001755695.1:n.1434T>C | ||
| NM_000444.6:c.755T>C MANE Select | NP_000435.3:p.Phe252Ser | |
| NM_001282754.2:c.755T>C | NP_001269683.1:p.Phe252Ser |