Revel Score:
ENST00000539817
0.633
ENST00000215739
0.633
ENST00000389355
0.633
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20992894A>C , CM000684.2:g.20992894A>C | GRCh38 |
| NC_000022.10:g.21347183A>C , CM000684.1:g.21347183A>C | GRCh37 |
| NC_000022.9:g.19677183A>C | NCBI36 |
| NG_034193.1:g.15626A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.1250A>C | ENSP00000515073.1:p.Tyr417Ser | |
| ENST00000495142.6:n.595A>C | ||
| ENST00000642151.1:c.1081A>C | ||
| ENST00000643578.1:n.1272A>C | ||
| ENST00000646124.2:c.1250A>C MANE Select | ENSP00000496779.1:p.Tyr417Ser | |
| ENST00000646506.1:n.829A>C | ||
| ENST00000215739.12:c.1250A>C | ENSP00000215739.8:p.Tyr417Ser | |
| ENST00000479606.5:n.1396A>C | ||
| ENST00000492480.1:n.306A>C | ||
| NM_006767.3:c.1250A>C | NP_006758.2:p.Tyr417Ser | |
| NM_006767.4:c.1250A>C MANE Select | NP_006758.2:p.Tyr417Ser |