Revel Score:
ENST00000316347
0.325
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53547908 (EAS)
Genomes Max Group AF
0.57985762 (EAS)
Exomes Max Group AF
0.52762824 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50274469C>T , CM000665.2:g.50274469C>T | GRCh38 |
| NC_000003.11:g.50311900C>T , CM000665.1:g.50311900C>T | GRCh37 |
| NC_000003.10:g.50286904C>T | NCBI36 |
| NG_032938.1:g.11862C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616701.5:c.1244C>T MANE Select | ENSP00000484146.1:p.Thr415Ile | |
| ENST00000418576.3:c.215C>T | ENSP00000485173.1:p.Thr72Ile | |
| ENST00000419007.5:n.1040C>T | ||
| ENST00000433753.4:c.1241C>T | ENSP00000485281.1:p.Thr414Ile | |
| ENST00000439487.5:n.533C>T | ||
| ENST00000441915.5:n.1240C>T | ||
| ENST00000456210.5:n.377C>T | ||
| ENST00000456560.6:c.215C>T | ENSP00000485646.1:p.Thr72Ile | |
| ENST00000611067.4:c.1259C>T | ENSP00000480680.1:p.Thr420Ile | |
| ENST00000611418.4:c.1243C>T | ENSP00000484583.1:p.Leu415= | |
| ENST00000616701.4:c.1244C>T | ENSP00000484146.1:p.Thr415Ile | |
| ENST00000618865.4:c.1244C>T | ENSP00000481957.1:p.Thr415Ile | |
| ENST00000619119.4:n.1719C>T | ||
| NM_001005914.2:c.1241C>T | NP_001005914.1:p.Thr414Ile | |
| NM_001290060.1:c.1244C>T | NP_001276989.1:p.Thr415Ile | |
| NM_001290061.1:c.1259C>T | NP_001276990.1:p.Thr420Ile | |
| NM_001290062.1:c.215C>T | NP_001276991.1:p.Thr72Ile | |
| NM_001290063.1:c.215C>T | NP_001276992.1:p.Thr72Ile | |
| NM_004636.3:c.1244C>T | NP_004627.1:p.Thr415Ile | |
| NR_110697.1:n.415C>T | ||
| NM_001290060.2:c.1244C>T MANE Select | NP_001276989.1:p.Thr415Ile | |
| NM_001005914.3:c.1241C>T | NP_001005914.1:p.Thr414Ile | |
| NM_001290062.2:c.215C>T | NP_001276991.1:p.Thr72Ile | |
| NM_001290063.2:c.215C>T | NP_001276992.1:p.Thr72Ile | |
| NM_004636.4:c.1244C>T | NP_004627.1:p.Thr415Ile |