Revel Score:
ENST00000324727 (MANE Select)
0.655
ENST00000529878
0.655
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118141304T>G , CM000673.2:g.118141304T>G | GRCh38 |
| NC_000011.9:g.118012019T>G , CM000673.1:g.118012019T>G | GRCh37 |
| NC_000011.8:g.117517229T>G | NCBI36 |
| NG_011710.1:g.16612A>C , LRG_330:g.16612A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324727.9:c.496A>C MANE Select | ENSP00000322460.4:p.Ile166Leu | |
| ENST00000324727.8:c.496A>C | ENSP00000322460.4:p.Ile166Leu | |
| ENST00000415030.6:n.639A>C | ||
| ENST00000423160.2:n.130A>C | ||
| ENST00000529878.1:c.94A>C | ENSP00000436343.1:p.Ile32Leu | |
| ENST00000531550.1:n.561A>C | ||
| ENST00000532138.1:n.752A>C | ||
| NM_001142348.1:c.94A>C | NP_001135820.1:p.Ile32Leu | |
| NM_001142349.1:c.166A>C | NP_001135821.1:p.Ile56Leu | |
| NM_174934.3:c.496A>C , LRG_330t1:c.496A>C | NP_777594.1:p.Ile166Leu | |
| NR_024527.1:n.521A>C | ||
| NM_001142348.2:c.94A>C | NP_001135820.1:p.Ile32Leu | |
| NM_001142349.2:c.166A>C | NP_001135821.1:p.Ile56Leu | |
| NR_024527.2:n.485A>C | ||
| NM_174934.4:c.496A>C MANE Select | NP_777594.1:p.Ile166Leu |