Revel Score:
ENST00000349716
0.872
ENST00000310346
0.872
ENST00000448888
0.872
ENST00000405440 (MANE Select)
0.872
ENST00000526441
0.872
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114398679A>C , CM000674.2:g.114398679A>C | GRCh38 |
| NC_000012.11:g.114836484A>C , CM000674.1:g.114836484A>C | GRCh37 |
| NC_000012.10:g.113320867A>C | NCBI36 |
| NG_007373.1:g.14764T>G , LRG_670:g.14764T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405440.7:c.404T>G MANE Select | ENSP00000384152.3:p.Leu135Arg | |
| ENST00000310346.8:c.404T>G | ENSP00000309913.4:p.Leu135Arg | |
| ENST00000349716.9:c.254T>G | ENSP00000337723.5:p.Leu85Arg | |
| ENST00000405440.6:c.404T>G | ENSP00000384152.2:p.Leu135Arg | |
| ENST00000526441.1:c.404T>G | ENSP00000433292.1:p.Leu135Arg | |
| ENST00000552726.1:n.455T>G | ||
| NM_000192.3:c.404T>G , LRG_670t1:c.404T>G | NP_000183.2:p.Leu135Arg | |
| NM_080717.2:c.254T>G | NP_542448.1:p.Leu85Arg | |
| NM_181486.2:c.404T>G | NP_852259.1:p.Leu135Arg | |
| XM_017019912.1:c.452T>G | XP_016875401.1:p.Leu151Arg | |
| NM_080717.3:c.254T>G | NP_542448.1:p.Leu85Arg | |
| NM_181486.4:c.404T>G MANE Select | NP_852259.1:p.Leu135Arg | |
| NM_080717.4:c.254T>G | NP_542448.1:p.Leu85Arg |