Revel Score:
ENST00000392665
0.991
ENST00000392666 (MANE Select)
0.991
ENST00000440599
0.991
ENST00000324036
0.991
ENST00000392664
0.991
ENST00000324003
0.991
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839979C>G , CM000673.2:g.128839979C>G | GRCh38 |
| NC_000011.9:g.128709874C>G , CM000673.1:g.128709874C>G | GRCh37 |
| NC_000011.8:g.128215084C>G | NCBI36 |
| NG_009379.1:g.32395G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.265G>C MANE Select | ENSP00000376434.1:p.Asp89His | |
| ENST00000324003.3:c.265G>C | ENSP00000316136.3:p.Asp89His | |
| ENST00000324036.7:c.265G>C | ENSP00000316233.3:p.Asp89His | |
| ENST00000392664.2:c.322G>C | ENSP00000376432.2:p.Asp108His | |
| ENST00000392665.6:c.265G>C | ENSP00000376433.2:p.Asp89His | |
| ENST00000392666.5:c.265G>C | ENSP00000376434.1:p.Asp89His | |
| ENST00000440599.6:c.265G>C | ENSP00000406320.2:p.Asp89His | |
| NM_000220.4:c.322G>C | NP_000211.1:p.Asp108His | |
| NM_153764.2:c.265G>C | NP_722448.1:p.Asp89His | |
| NM_153765.2:c.316G>C | NP_722449.3:p.Asp106His | |
| NM_153766.2:c.265G>C | NP_722450.1:p.Asp89His | |
| NM_153767.3:c.265G>C | NP_722451.1:p.Asp89His | |
| NM_000220.6:c.322G>C | NP_000211.1:p.Asp108His | |
| NM_153764.3:c.265G>C | NP_722448.1:p.Asp89His | |
| NM_153765.3:c.316G>C | NP_722449.3:p.Asp106His | |
| NM_153766.3:c.265G>C MANE Select | NP_722450.1:p.Asp89His | |
| NM_153767.4:c.265G>C | NP_722451.1:p.Asp89His |