Revel Score:
ENST00000324727 (MANE Select)
0.739
ENST00000529878
0.739
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00133013 (AFR)
Genomes Max Group AF
0.00134581 (AFR)
Exomes Max Group AF
0.00111147 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118141258A>G , CM000673.2:g.118141258A>G | GRCh38 |
| NC_000011.9:g.118011973A>G , CM000673.1:g.118011973A>G | GRCh37 |
| NC_000011.8:g.117517183A>G | NCBI36 |
| NG_011710.1:g.16658T>C , LRG_330:g.16658T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324727.9:c.542T>C MANE Select | ENSP00000322460.4:p.Leu181Pro | |
| ENST00000324727.8:c.542T>C | ENSP00000322460.4:p.Leu181Pro | |
| ENST00000415030.6:n.685T>C | ||
| ENST00000423160.2:n.176T>C | ||
| ENST00000529878.1:c.140T>C | ENSP00000436343.1:p.Leu47Pro | |
| ENST00000531550.1:n.607T>C | ||
| ENST00000532138.1:n.798T>C | ||
| NM_001142348.1:c.140T>C | NP_001135820.1:p.Leu47Pro | |
| NM_001142349.1:c.212T>C | NP_001135821.1:p.Leu71Pro | |
| NM_174934.3:c.542T>C , LRG_330t1:c.542T>C | NP_777594.1:p.Leu181Pro | |
| NR_024527.1:n.567T>C | ||
| NM_001142348.2:c.140T>C | NP_001135820.1:p.Leu47Pro | |
| NM_001142349.2:c.212T>C | NP_001135821.1:p.Leu71Pro | |
| NR_024527.2:n.531T>C | ||
| NM_174934.4:c.542T>C MANE Select | NP_777594.1:p.Leu181Pro |