Revel Score:
ENST00000428202 (MANE Select)
0.149
ENST00000514838
0.149
ENST00000446329
0.149
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.75707853T>A , CM000667.2:g.75707853T>A | GRCh38 |
| NC_000005.9:g.75003678T>A , CM000667.1:g.75003678T>A | GRCh37 |
| NC_000005.8:g.75039434T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428202.7:c.107A>T MANE Select | ENSP00000410216.2:p.His36Leu | |
| ENST00000428202.6:c.107A>T | ENSP00000410216.2:p.His36Leu | |
| ENST00000446329.6:c.32A>T | ENSP00000399481.2:p.His11Leu | |
| ENST00000502826.5:c.-128-2066A>T | ENSP00000425726.1:n.-128-2066A>T | |
| ENST00000503835.5:c.-245A>T | ENSP00000424264.1:n.-245A>T | |
| ENST00000504862.5:n.91A>T | ||
| ENST00000506164.5:c.-128-2066A>T | ENSP00000425108.1:n.-128-2066A>T | |
| ENST00000507421.1:n.219A>T | ||
| ENST00000508467.5:n.246A>T | ||
| ENST00000510798.5:c.-245A>T | ENSP00000426796.1:n.-245A>T | |
| ENST00000512125.5:n.310A>T | ||
| ENST00000514838.6:c.107A>T | ENSP00000420971.1:p.His36Leu | |
| ENST00000515285.5:c.166A>T | ENSP00000425885.1:p.Ile56Phe | |
| NM_001099271.1:c.107A>T | NP_001092741.1:p.His36Leu | |
| NM_152408.2:c.32A>T | NP_689621.2:p.His11Leu | |
| XM_005248436.1:c.107A>T | XP_005248493.1:p.His36Leu | |
| XM_005248437.3:c.107A>T | XP_005248494.2:p.His36Leu | |
| XM_011543158.1:c.107A>T | XP_011541460.1:p.His36Leu | |
| XM_011543159.1:c.-245A>T | XP_011541461.1:n.-245A>T | |
| XM_011543160.1:c.-245A>T | XP_011541462.1:n.-245A>T | |
| XM_011543158.2:c.107A>T | XP_011541460.1:p.His36Leu | |
| XM_017009037.2:c.107A>T | XP_016864526.1:p.His36Leu | |
| XM_017009040.2:c.-128-2066A>T | XP_016864529.1:n.-128-2066A>T | |
| XM_024454362.1:c.107A>T | XP_024310130.1:p.His36Leu | |
| XM_024454363.1:c.-245A>T | XP_024310131.1:n.-245A>T | |
| XR_001741999.1:n.304A>T | ||
| NM_001099271.2:c.107A>T MANE Select | NP_001092741.1:p.His36Leu | |
| NM_152408.3:c.32A>T | NP_689621.2:p.His11Leu |