Revel Score:
ENST00000399503 (MANE Select)
0.446
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56856683T>G , CM000667.2:g.56856683T>G | GRCh38 |
| NC_000005.9:g.56152510T>G , CM000667.1:g.56152510T>G | GRCh37 |
| NC_000005.8:g.56188267T>G | NCBI36 |
| NG_031884.1:g.46611T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.566T>G MANE Select | ENSP00000382423.3:p.Leu189Arg | |
| ENST00000399503.3:c.566T>G | ENSP00000382423.3:p.Leu189Arg | |
| NM_005921.1:c.566T>G | NP_005912.1:p.Leu189Arg | |
| XM_005248519.3:c.188T>G | XP_005248576.2:p.Leu63Arg | |
| XM_011543406.1:c.311T>G | XP_011541708.1:p.Leu104Arg | |
| XM_011543407.1:c.566T>G | XP_011541709.1:p.Leu189Arg | |
| XM_011543408.1:c.566T>G | XP_011541710.1:p.Leu189Arg | |
| XM_017009484.1:c.155T>G | XP_016864973.1:p.Leu52Arg | |
| XM_017009485.1:c.77T>G | XP_016864974.1:p.Leu26Arg | |
| XR_001742068.2:n.597T>G | ||
| NM_005921.2:c.566T>G MANE Select | NP_005912.1:p.Leu189Arg |