Revel Score:
ENST00000389794
0.199
ENST00000389793 (MANE Select)
0.199
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235697168A>C , CM000663.2:g.235697168A>C | GRCh38 |
| NC_000001.10:g.235860468A>C , CM000663.1:g.235860468A>C | GRCh37 |
| NC_000001.9:g.233927091A>C | NCBI36 |
| NG_007397.1:g.191473T>G , LRG_143:g.191473T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462376.2:n.1889T>G | ||
| ENST00000697178.1:c.*6174T>G | ENSP00000513163.1:n.*6174T>G | |
| ENST00000697179.1:n.3188T>G | ||
| ENST00000697235.1:c.1029T>G | ENSP00000513202.1:p.Phe343Leu | |
| ENST00000697236.1:c.3943T>G | ENSP00000513203.1:n.3943T>G | |
| ENST00000697237.1:c.1190T>G | ||
| ENST00000697240.1:c.2613T>G | ENSP00000513205.1:p.Phe871Leu | |
| ENST00000389793.7:c.10479T>G MANE Select | ENSP00000374443.2:p.Phe3493Leu | |
| ENST00000389793.6:c.10479T>G | ENSP00000374443.2:p.Phe3493Leu | |
| ENST00000389794.7:c.*5903T>G | ENSP00000374444.4:n.*5903T>G | |
| ENST00000473037.5:n.5469T>G | ||
| NM_000081.3:c.10479T>G , LRG_143t1:c.10479T>G | NP_000072.2:p.Phe3493Leu | |
| NM_001301365.1:c.10479T>G , LRG_143t2:c.10479T>G | NP_001288294.1:p.Phe3493Leu | |
| XM_011544031.1:c.10641T>G | XP_011542333.1:p.Phe3547Leu | |
| XM_011544032.1:c.10641T>G | XP_011542334.1:p.Phe3547Leu | |
| XM_011544033.1:c.10641T>G | XP_011542335.1:p.Phe3547Leu | |
| XM_011544034.1:c.10503T>G | XP_011542336.1:p.Phe3501Leu | |
| XM_011544036.1:c.8304T>G | XP_011542338.1:p.Phe2768Leu | |
| XM_011544033.2:c.10641T>G | XP_011542335.1:p.Phe3547Leu | |
| XM_011544036.2:c.8304T>G | XP_011542338.1:p.Phe2768Leu | |
| XM_017000150.1:c.10410T>G | XP_016855639.1:p.Phe3470Leu | |
| NM_000081.4:c.10479T>G MANE Select | NP_000072.2:p.Phe3493Leu |