Revel Score:
ENST00000370083 (MANE Select)
0.680
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103660611C>T , CM000663.2:g.103660611C>T | GRCh38 |
| NC_000001.10:g.104203233C>T , CM000663.1:g.104203233C>T | GRCh37 |
| NC_000001.9:g.104004756C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370083.9:c.1036C>T MANE Select | ENSP00000359100.4:p.His346Tyr | |
| ENST00000370083.8:c.1036C>T | ENSP00000359100.4:p.His346Tyr | |
| NM_001008221.1:c.1036C>T | NP_001008222.1:p.His346Tyr | |
| NM_004038.3:c.1036C>T | NP_004029.2:p.His346Tyr | |
| NM_004038.4:c.1036C>T MANE Select | NP_004029.2:p.His346Tyr |