Revel Score:
ENST00000393504
0.987
ENST00000436404
0.987
ENST00000272602 (MANE Select)
0.987
ENST00000409937
0.987
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98396809T>C , CM000664.2:g.98396809T>C | GRCh38 |
| NC_000002.11:g.99013272T>C , CM000664.1:g.99013272T>C | GRCh37 |
| NC_000002.10:g.98379704T>C | NCBI36 |
| NG_009097.1:g.55655T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272602.7:c.1639T>C MANE Select | ENSP00000272602.2:p.Phe547Leu | |
| ENST00000272602.6:c.1639T>C | ENSP00000272602.2:p.Phe547Leu | |
| ENST00000393504.5:c.1639T>C | ENSP00000377140.1:p.Phe547Leu | |
| ENST00000409937.1:c.1651T>C | ENSP00000386761.1:p.Phe551Leu | |
| ENST00000436404.6:c.1585T>C | ENSP00000410070.2:p.Phe529Leu | |
| NM_001079878.1:c.1585T>C | NP_001073347.1:p.Phe529Leu | |
| NM_001298.2:c.1639T>C | NP_001289.1:p.Phe547Leu | |
| XM_006712243.2:c.1750T>C | XP_006712306.1:p.Phe584Leu | |
| XM_011510554.1:c.1804T>C | XP_011508856.1:p.Phe602Leu | |
| XM_011510554.2:c.1804T>C | XP_011508856.1:p.Phe602Leu | |
| NM_001079878.2:c.1585T>C | NP_001073347.1:p.Phe529Leu | |
| NM_001298.3:c.1639T>C MANE Select | NP_001289.1:p.Phe547Leu |