Revel Score:
ENST00000290219 (MANE Select)
0.057
ENST00000381995
0.057
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33414894T>C , CM000683.2:g.33414894T>C | GRCh38 |
| NC_000021.8:g.34787201T>C , CM000683.1:g.34787201T>C | GRCh37 |
| NC_000021.7:g.33709071T>C | NCBI36 |
| NG_007570.2:g.34903T>C , LRG_67:g.34903T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290219.11:c.80T>C MANE Select | ENSP00000290219.5:p.Leu27Pro | |
| ENST00000290219.10:c.80T>C | ENSP00000290219.5:p.Leu27Pro | |
| ENST00000381995.5:c.137T>C | ENSP00000371425.1:p.Leu46Pro | |
| ENST00000405436.5:c.-158T>C | ENSP00000385044.1:n.-158T>C | |
| ENST00000439213.5:c.*55T>C | ENSP00000407541.1:n.*55T>C | |
| ENST00000545369.2:c.74-6586T>C | ENSP00000442735.2:n.74-6586T>C | |
| NM_005534.3:c.80T>C , LRG_67t1:c.80T>C | NP_005525.2:p.Leu27Pro | |
| XM_005260969.2:c.137T>C | XP_005261026.1:p.Leu46Pro | |
| XM_011529553.1:c.155T>C | XP_011527855.1:p.Leu52Pro | |
| XM_011529554.1:c.86T>C | XP_011527856.1:p.Leu29Pro | |
| NM_001329128.1:c.137T>C | NP_001316057.1:p.Leu46Pro | |
| XM_011529554.2:c.86T>C | XP_011527856.1:p.Leu29Pro | |
| NM_001329128.2:c.137T>C | NP_001316057.1:p.Leu46Pro | |
| NM_005534.4:c.80T>C MANE Select | NP_005525.2:p.Leu27Pro |