Revel Score:
ENST00000395802
0.073
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00004345 (EAS)
Exomes Max Group AF
0.00004907 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58444121C>T , CM000682.2:g.58444121C>T | GRCh38 |
| NC_000020.10:g.57019177C>T , CM000682.1:g.57019177C>T | GRCh37 |
| NC_000020.9:g.56452583C>T | NCBI36 |
| NG_008073.2:g.59933C>T , LRG_656:g.59933C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475243.6:c.618C>T MANE Select | ENSP00000417175.1:p.Ser206= | |
| ENST00000265619.6:n.812C>T | ||
| ENST00000395802.7:c.256C>T | ENSP00000379147.3:p.Pro86Ser | |
| ENST00000463370.5:n.962C>T | ||
| ENST00000475243.5:c.618C>T | ENSP00000417175.1:p.Ser206= | |
| ENST00000476395.1:n.2152C>T | ||
| ENST00000520497.1:c.*217C>T | ENSP00000430426.1:n.*217C>T | |
| NM_001195677.1:c.256C>T | NP_001182606.1:p.Pro86Ser | |
| NM_004738.4:c.618C>T , LRG_656t1:c.618C>T | NP_004729.1:p.Ser206= | |
| NR_036633.1:n.774C>T | ||
| NM_001195677.2:c.256C>T | NP_001182606.1:p.Pro86Ser | |
| NM_004738.5:c.618C>T MANE Select | NP_004729.1:p.Ser206= | |
| NR_036633.2:n.664C>T |