Revel Score:
ENST00000304506 (MANE Select)
0.026
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132660272A>T , CM000667.2:g.132660272A>T | GRCh38 |
| NC_000005.9:g.131995964A>T , CM000667.1:g.131995964A>T | GRCh37 |
| NC_000005.8:g.132023863A>T | NCBI36 |
| NG_012090.1:g.7100A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304506.7:c.431A>T MANE Select | ENSP00000304915.3:p.Gln144Leu | |
| ENST00000459878.5:n.435A>T | ||
| ENST00000462480.1:n.1502A>T | ||
| ENST00000468334.5:n.804A>T | ||
| ENST00000487267.5:n.602A>T | ||
| ENST00000617259.2:c.389A>T | ENSP00000479835.1:p.Gln130Leu | |
| NM_002188.2:c.431A>T | NP_002179.2:p.Gln144Leu | |
| NM_001354991.1:c.236A>T | NP_001341920.1:p.Gln79Leu | |
| NM_001354992.1:c.236A>T | NP_001341921.1:p.Gln79Leu | |
| NM_001354993.1:c.236A>T | NP_001341922.1:p.Gln79Leu | |
| NM_002188.3:c.431A>T MANE Select | NP_002179.2:p.Gln144Leu | |
| NM_001354991.2:c.236A>T | NP_001341920.1:p.Gln79Leu | |
| NM_001354992.2:c.236A>T | NP_001341921.1:p.Gln79Leu | |
| NM_001354993.2:c.236A>T | NP_001341922.1:p.Gln79Leu |