Revel Score:
ENST00000456935 (MANE Select)
0.941
ENST00000536796
0.941
ENST00000221363
0.941
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12665756T>A , CM000681.2:g.12665756T>A | GRCh38 |
| NC_000019.9:g.12776570T>A , CM000681.1:g.12776570T>A | GRCh37 |
| NC_000019.8:g.12637570T>A | NCBI36 |
| NG_008318.1:g.6022A>T | |
| NG_015814.1:g.3953T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.209A>T MANE Select | ENSP00000395473.2:p.His70Leu | |
| ENST00000221363.8:c.209A>T | ENSP00000221363.4:p.His70Leu | |
| ENST00000456935.6:c.209A>T | ENSP00000395473.2:p.His70Leu | |
| ENST00000466794.5:n.191A>T | ||
| ENST00000486847.2:c.160-231A>T | ENSP00000470174.1:n.160-231A>T | |
| ENST00000596512.5:n.201-231A>T | ||
| ENST00000597961.1:c.200A>T | ENSP00000472710.1:p.His67Leu | |
| ENST00000598876.1:c.236A>T | ENSP00000470533.1:p.His79Leu | |
| ENST00000600281.1:n.250A>T | ||
| NM_000528.3:c.209A>T | NP_000519.2:p.His70Leu | |
| NM_001173498.1:c.209A>T | NP_001166969.1:p.His70Leu | |
| XM_005259913.1:c.209A>T | XP_005259970.1:p.His70Leu | |
| XM_005259913.2:c.209A>T | XP_005259970.1:p.His70Leu | |
| XM_024451518.1:c.-810A>T | XP_024307286.1:n.-810A>T | |
| NM_000528.4:c.209A>T MANE Select | NP_000519.2:p.His70Leu | |
| NM_001173498.2:c.209A>T | NP_001166969.1:p.His70Leu |