Revel Score:
ENST00000377833 (MANE Select)
0.135
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00032345 (MID)
Genomes Max Group AF
0.00007296 (SAS)
Exomes Max Group AF
0.00034157 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16948498G>A , CM000672.2:g.16948498G>A | GRCh38 |
| NC_000010.10:g.16990497G>A , CM000672.1:g.16990497G>A | GRCh37 |
| NC_000010.9:g.17030503G>A | NCBI36 |
| NG_008967.1:g.186320C>T , LRG_540:g.186320C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.5189C>T MANE Select | ENSP00000367064.4:p.Thr1730Met | |
| ENST00000377833.8:c.5189C>T | ENSP00000367064.4:p.Thr1730Met | |
| NM_001081.3:c.5189C>T , LRG_540t1:c.5189C>T | NP_001072.2:p.Thr1730Met | |
| XM_011519708.1:c.5189C>T | XP_011518010.1:p.Thr1730Met | |
| XM_011519709.1:c.1175C>T | XP_011518011.1:p.Thr392Met | |
| XM_011519710.1:c.1151C>T | XP_011518012.1:p.Thr384Met | |
| XM_011519711.1:c.1031C>T | XP_011518013.1:p.Thr344Met | |
| XM_011519708.2:c.5189C>T | XP_011518010.1:p.Thr1730Met | |
| XM_011519709.2:c.1175C>T | XP_011518011.1:p.Thr392Met | |
| XM_011519710.2:c.1151C>T | XP_011518012.1:p.Thr384Met | |
| XM_011519711.3:c.1031C>T | XP_011518013.1:p.Thr344Met | |
| NM_001081.4:c.5189C>T MANE Select | NP_001072.2:p.Thr1730Met |