Revel Score:
ENST00000496887
0.867
ENST00000155840 (MANE Select)
0.867
ENST00000335475
0.867
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572848G>C , CM000673.2:g.2572848G>C | GRCh38 |
| NC_000011.9:g.2594078G>C , CM000673.1:g.2594078G>C | GRCh37 |
| NC_000011.8:g.2550654G>C | NCBI36 |
| NG_008935.1:g.132858G>C , LRG_287:g.132858G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.522G>C | ENSP00000434560.2:p.Glu174Asp | |
| ENST00000646564.2:c.478-10587G>C | ENSP00000495806.2:n.478-10587G>C | |
| ENST00000155840.12:c.783G>C MANE Select | ENSP00000155840.2:p.Glu261Asp | |
| ENST00000335475.6:c.402G>C | ENSP00000334497.5:p.Glu134Asp | |
| ENST00000646564.1:c.124-10587G>C | ENSP00000495806.1:n.124-10587G>C | |
| ENST00000155840.9:c.783G>C | ENSP00000155840.2:p.Glu261Asp | |
| ENST00000335475.5:c.402G>C | ENSP00000334497.5:p.Glu134Asp | |
| ENST00000496887.6:c.522G>C | ENSP00000434560.1:p.Glu174Asp | |
| NM_000218.2:c.783G>C , LRG_287t1:c.783G>C | NP_000209.2:p.Glu261Asp | |
| NM_181798.1:c.402G>C , LRG_287t2:c.402G>C | NP_861463.1:p.Glu134Asp | |
| NM_000218.3:c.783G>C MANE Select | NP_000209.2:p.Glu261Asp |