Revel Score:
ENST00000271588 (MANE Select)
0.268
ENST00000367492
0.268
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186095389C>G , CM000663.2:g.186095389C>G | GRCh38 |
| NC_000001.10:g.186064521C>G , CM000663.1:g.186064521C>G | GRCh37 |
| NC_000001.9:g.184331144C>G | NCBI36 |
| NG_011841.1:g.365839C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.10441C>G MANE Select | ENSP00000271588.4:p.His3481Asp | |
| ENST00000271588.8:c.10441C>G | ENSP00000271588.4:p.His3481Asp | |
| NM_031935.2:c.10441C>G | NP_114141.2:p.His3481Asp | |
| XM_011510037.1:c.10156C>G | XP_011508339.1:p.His3386Asp | |
| XM_011510038.1:c.10441C>G | XP_011508340.1:p.His3481Asp | |
| XM_011510039.1:c.10441C>G | XP_011508341.1:p.His3481Asp | |
| XM_011510038.3:c.10441C>G | XP_011508340.1:p.His3481Asp | |
| XM_017002437.1:c.8464C>G | XP_016857926.1:p.His2822Asp | |
| XM_024450118.1:c.*89C>G | XP_024305886.1:n.*89C>G | |
| NM_031935.3:c.10441C>G MANE Select | NP_114141.2:p.His3481Asp |