Revel Score:
ENST00000378802 (MANE Select)
0.880
ENST00000274118
0.880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186201326A>T , CM000666.2:g.186201326A>T | GRCh38 |
| NC_000004.11:g.187122480A>T , CM000666.1:g.187122480A>T | GRCh37 |
| NC_000004.10:g.187359474A>T | NCBI36 |
| NG_007965.1:g.14807A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.971A>T MANE Select | ENSP00000368079.4:p.Asp324Val | |
| ENST00000378802.4:c.971A>T | ENSP00000368079.4:p.Asp324Val | |
| ENST00000507209.5:n.1812A>T | ||
| NM_207352.3:c.971A>T | NP_997235.3:p.Asp324Val | |
| XM_005262935.2:c.971A>T | XP_005262992.1:p.Asp324Val | |
| XM_006714184.2:c.575A>T | XP_006714247.1:p.Asp192Val | |
| XM_005262935.4:c.971A>T | XP_005262992.1:p.Asp324Val | |
| XM_017008037.1:c.575A>T | XP_016863526.1:p.Asp192Val | |
| NM_207352.4:c.971A>T MANE Select | NP_997235.3:p.Asp324Val |