Revel Score:
ENST00000271588 (MANE Select)
0.946
ENST00000367492
0.946
ENST00000414277
0.946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186174523A>C , CM000663.2:g.186174523A>C | GRCh38 |
| NC_000001.10:g.186143655A>C , CM000663.1:g.186143655A>C | GRCh37 |
| NC_000001.9:g.184410278A>C | NCBI36 |
| NG_011841.1:g.444973A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15824A>C MANE Select | ENSP00000271588.4:p.Glu5275Ala | |
| ENST00000271588.8:c.15824A>C | ENSP00000271588.4:p.Glu5275Ala | |
| ENST00000414277.1:c.200A>C | ENSP00000406205.1:p.Glu67Ala | |
| NM_031935.2:c.15824A>C | NP_114141.2:p.Glu5275Ala | |
| XM_011510037.1:c.15539A>C | XP_011508339.1:p.Glu5180Ala | |
| XM_011510038.1:c.15824A>C | XP_011508340.1:p.Glu5275Ala | |
| XM_011510038.3:c.15824A>C | XP_011508340.1:p.Glu5275Ala | |
| XM_017002437.1:c.13847A>C | XP_016857926.1:p.Glu4616Ala | |
| NM_031935.3:c.15824A>C MANE Select | NP_114141.2:p.Glu5275Ala |