Revel Score:
ENST00000271588 (MANE Select)
0.292
ENST00000367492
0.292
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186130052G>C , CM000663.2:g.186130052G>C | GRCh38 |
| NC_000001.10:g.186099184G>C , CM000663.1:g.186099184G>C | GRCh37 |
| NC_000001.9:g.184365807G>C | NCBI36 |
| NG_011841.1:g.400502G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.12991G>C MANE Select | ENSP00000271588.4:p.Glu4331Gln | |
| ENST00000271588.8:c.12991G>C | ENSP00000271588.4:p.Glu4331Gln | |
| NM_031935.2:c.12991G>C | NP_114141.2:p.Glu4331Gln | |
| XM_011510037.1:c.12706G>C | XP_011508339.1:p.Glu4236Gln | |
| XM_011510038.1:c.12991G>C | XP_011508340.1:p.Glu4331Gln | |
| XM_011510039.1:c.12991G>C | XP_011508341.1:p.Glu4331Gln | |
| XM_011510038.3:c.12991G>C | XP_011508340.1:p.Glu4331Gln | |
| XM_017002437.1:c.11014G>C | XP_016857926.1:p.Glu3672Gln | |
| NM_031935.3:c.12991G>C MANE Select | NP_114141.2:p.Glu4331Gln |