Revel Score:
ENST00000155840 (MANE Select)
0.898
ENST00000335475
0.898
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2587581G>T , CM000673.2:g.2587581G>T | GRCh38 |
| NC_000011.9:g.2608811G>T , CM000673.1:g.2608811G>T | GRCh37 |
| NC_000011.8:g.2565387G>T | NCBI36 |
| NG_008935.1:g.147591G>T , LRG_287:g.147591G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.783G>T | ENSP00000434560.2:p.Arg261Ser | |
| ENST00000646564.2:c.600G>T | ENSP00000495806.2:p.Arg200Ser | |
| ENST00000155840.12:c.1140G>T MANE Select | ENSP00000155840.2:p.Arg380Ser | |
| ENST00000335475.6:c.759G>T | ENSP00000334497.5:p.Arg253Ser | |
| ENST00000646564.1:c.246G>T | ENSP00000495806.1:p.Arg82Ser | |
| ENST00000155840.9:c.1140G>T | ENSP00000155840.2:p.Arg380Ser | |
| ENST00000335475.5:c.759G>T | ENSP00000334497.5:p.Arg253Ser | |
| NM_000218.2:c.1140G>T , LRG_287t1:c.1140G>T | NP_000209.2:p.Arg380Ser | |
| NM_181798.1:c.759G>T , LRG_287t2:c.759G>T | NP_861463.1:p.Arg253Ser | |
| NM_000218.3:c.1140G>T MANE Select | NP_000209.2:p.Arg380Ser |