Revel Score:
ENST00000378802 (MANE Select)
0.236
ENST00000274118
0.236
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186205240A>T , CM000666.2:g.186205240A>T | GRCh38 |
| NC_000004.11:g.187126394A>T , CM000666.1:g.187126394A>T | GRCh37 |
| NC_000004.10:g.187363388A>T | NCBI36 |
| NG_007965.1:g.18721A>T | |
| NG_012095.2:g.1262A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1028A>T MANE Select | ENSP00000368079.4:p.Tyr343Phe | |
| ENST00000378802.4:c.1028A>T | ENSP00000368079.4:p.Tyr343Phe | |
| ENST00000502665.1:n.263A>T | ||
| ENST00000507209.5:n.5726A>T | ||
| ENST00000513354.5:n.118A>T | ||
| NM_207352.3:c.1028A>T | NP_997235.3:p.Tyr343Phe | |
| XM_005262935.2:c.1028A>T | XP_005262992.1:p.Tyr343Phe | |
| XM_006714184.2:c.632A>T | XP_006714247.1:p.Tyr211Phe | |
| XM_005262935.4:c.1028A>T | XP_005262992.1:p.Tyr343Phe | |
| XM_017008037.1:c.632A>T | XP_016863526.1:p.Tyr211Phe | |
| NM_207352.4:c.1028A>T MANE Select | NP_997235.3:p.Tyr343Phe |