Revel Score:
ENST00000246635 (MANE Select)
0.943
ENST00000336861
0.943
ENST00000157775
0.943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41505195A>G , CM000679.2:g.41505195A>G | GRCh38 |
| NC_000017.10:g.39661447A>G , CM000679.1:g.39661447A>G | GRCh37 |
| NC_000017.9:g.36914973A>G | NCBI36 |
| NG_008406.1:g.5419T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246635.8:c.356T>C MANE Select | ENSP00000246635.3:p.Leu119Pro | |
| ENST00000246635.7:c.356T>C | ENSP00000246635.3:p.Leu119Pro | |
| ENST00000336861.7:c.356T>C | ENSP00000336604.3:p.Leu119Pro | |
| ENST00000464634.2:c.145T>C | ENSP00000466525.1:p.Trp49Arg | |
| ENST00000468313.5:n.192T>C | ||
| ENST00000587435.1:c.356T>C | ENSP00000467833.1:p.Leu119Pro | |
| ENST00000587544.5:c.356T>C | ENSP00000468221.1:p.Leu119Pro | |
| ENST00000590425.1:c.35T>C | ENSP00000466465.1:p.Leu12Pro | |
| NM_002274.3:c.356T>C | NP_002265.2:p.Leu119Pro | |
| NM_153490.2:c.356T>C | NP_705694.2:p.Leu119Pro | |
| NM_153490.3:c.356T>C MANE Select | NP_705694.3:p.Leu119Pro | |
| NM_002274.4:c.356T>C | NP_002265.3:p.Leu119Pro |