Revel Score:
ENST00000168216 (MANE Select)
0.836
ENST00000375304
0.836
ENST00000375298
0.836
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53432347T>C , CM000685.2:g.53432347T>C | GRCh38 |
| NC_000023.10:g.53459295T>C , CM000685.1:g.53459295T>C | GRCh37 |
| NC_000023.9:g.53476020T>C | NCBI36 |
| NG_008153.1:g.7029A>G , LRG_450:g.7029A>G | |
| NG_033076.2:g.14493T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495986.2:n.401A>G | ||
| ENST00000682365.1:n.1592A>G | ||
| ENST00000684251.1:n.101A>G | ||
| ENST00000684503.1:n.422A>G | ||
| ENST00000684692.1:c.257A>G | ENSP00000506792.1:p.Asp86Gly | |
| ENST00000168216.11:c.257A>G MANE Select | ENSP00000168216.6:p.Asp86Gly | |
| ENST00000168216.10:c.257A>G | ENSP00000168216.6:p.Asp86Gly | |
| ENST00000375298.4:c.257A>G | ENSP00000364447.4:p.Asp86Gly | |
| ENST00000375304.9:c.257A>G | ENSP00000364453.5:p.Asp86Gly | |
| ENST00000495986.1:n.389A>G | ||
| NM_001037811.2:c.257A>G , LRG_450t2:c.257A>G | NP_001032900.1:p.Asp86Gly | |
| NM_004493.2:c.257A>G , LRG_450t1:c.257A>G | NP_004484.1:p.Asp86Gly | |
| NM_004493.3:c.257A>G MANE Select | NP_004484.1:p.Asp86Gly |