Revel Score:
ENST00000383768 (MANE Select)
0.167
ENST00000421010
0.167
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.28524594T>C , CM000665.2:g.28524594T>C | GRCh38 |
| NC_000003.11:g.28566085T>C , CM000665.1:g.28566085T>C | GRCh37 |
| NC_000003.10:g.28541089T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383768.7:c.977T>C MANE Select | ENSP00000373278.2:p.Leu326Pro | |
| ENST00000635992.1:c.*115+3478T>C | ENSP00000489994.1:n.*115+3478T>C | |
| ENST00000383768.6:c.977T>C | ENSP00000373278.2:p.Leu326Pro | |
| ENST00000419130.5:c.630T>C | ||
| ENST00000457897.1:c.377+3478T>C | ||
| NM_001040432.2:c.977T>C | NP_001035522.1:p.Leu326Pro | |
| NM_001040432.3:c.977T>C | NP_001035522.1:p.Leu326Pro | |
| NM_001324169.1:c.977T>C | NP_001311098.1:p.Leu326Pro | |
| NM_001324170.1:c.791T>C | NP_001311099.1:p.Leu264Pro | |
| NR_136708.1:n.927T>C | ||
| XM_017005755.1:c.977T>C | XP_016861244.1:p.Leu326Pro | |
| XM_017005756.1:c.791T>C | XP_016861245.1:p.Leu264Pro | |
| XR_001740033.1:n.4713T>C | ||
| NM_001040432.4:c.977T>C MANE Select | NP_001035522.1:p.Leu326Pro | |
| NM_001324169.2:c.977T>C | NP_001311098.1:p.Leu326Pro | |
| NM_001324170.2:c.791T>C | NP_001311099.1:p.Leu264Pro | |
| NR_136708.2:n.1355T>C |