Revel Score:
ENST00000402696 (MANE Select)
0.157
ENST00000264998
0.157
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133766289A>C , CM000665.2:g.133766289A>C | GRCh38 |
| NC_000003.11:g.133485133A>C , CM000665.1:g.133485133A>C | GRCh37 |
| NC_000003.10:g.134967823A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.1342A>C MANE Select | ENSP00000385834.3:p.Ile448Leu | |
| ENST00000402696.7:c.1342A>C | ENSP00000385834.3:p.Ile448Leu | |
| ENST00000461695.1:c.12A>C | ||
| XM_011513100.1:c.1342A>C | XP_011511402.1:p.Ile448Leu | |
| NM_001063.4:c.1342A>C MANE Select | NP_001054.2:p.Ile448Leu | |
| NM_001354703.2:c.1210A>C | NP_001341632.2:p.Ile404Leu | |
| NM_001354704.2:c.961A>C | NP_001341633.2:p.Ile321Leu |