Revel Score:
ENST00000395680
0.902
ENST00000395681
0.902
ENST00000252029 (MANE Select)
0.902
ENST00000395678
0.902
ENST00000425169
0.902
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50527716A>C , CM000684.2:g.50527716A>C | GRCh38 |
| NC_000022.10:g.50966145A>C , CM000684.1:g.50966145A>C | GRCh37 |
| NC_000022.9:g.49313011A>C | NCBI36 |
| NG_011860.1:g.7370T>G , LRG_727:g.7370T>G | |
| NG_016235.1:g.3724T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252029.8:c.518T>G MANE Select | ENSP00000252029.3:p.Met173Arg | |
| ENST00000395680.6:c.518T>G | ENSP00000379037.1:p.Met173Arg | |
| ENST00000395681.6:c.518T>G | ENSP00000379038.1:p.Met173Arg | |
| ENST00000650719.1:c.518T>G | ENSP00000498276.1:p.Met173Arg | |
| ENST00000651401.1:c.2T>G | ENSP00000499115.1:p.Met1Arg | |
| ENST00000651906.1:n.637T>G | ||
| ENST00000652352.1:c.229T>G | ENSP00000498579.1:p.Cys77Gly | |
| ENST00000252029.7:c.518T>G | ENSP00000252029.3:p.Met173Arg | |
| ENST00000395678.7:c.518T>G | ENSP00000379036.3:p.Met173Arg | |
| ENST00000395680.5:c.518T>G | ENSP00000379037.1:p.Met173Arg | |
| ENST00000395681.5:c.518T>G | ENSP00000379038.1:p.Met173Arg | |
| ENST00000425169.1:c.419T>G | ENSP00000395875.1:p.Met140Arg | |
| ENST00000476284.1:n.643T>G | ||
| ENST00000487577.5:n.805T>G | ||
| NM_001113755.2:c.518T>G | NP_001107227.1:p.Met173Arg | |
| NM_001113756.2:c.518T>G | NP_001107228.1:p.Met173Arg | |
| NM_001257988.1:c.518T>G , LRG_727t1:c.518T>G | NP_001244917.1:p.Met173Arg | |
| NM_001257989.1:c.518T>G , LRG_727t2:c.518T>G | NP_001244918.1:p.Met173Arg | |
| NM_001953.4:c.518T>G | NP_001944.1:p.Met173Arg | |
| NM_001113755.3:c.518T>G | NP_001107227.1:p.Met173Arg | |
| NM_001113756.3:c.518T>G | NP_001107228.1:p.Met173Arg | |
| NM_001953.5:c.518T>G MANE Select | NP_001944.1:p.Met173Arg |