Revel Score:
ENST00000475243 (MANE Select)
0.440
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006889 (NFE)
Genomes Max Group AF
0.00006804 (NFE)
Exomes Max Group AF
0.00006521 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58444170C>T , CM000682.2:g.58444170C>T | GRCh38 |
| NC_000020.10:g.57019226C>T , CM000682.1:g.57019226C>T | GRCh37 |
| NC_000020.9:g.56452632C>T | NCBI36 |
| NG_008073.2:g.59982C>T , LRG_656:g.59982C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475243.6:c.667C>T MANE Select | ENSP00000417175.1:p.Arg223Trp | |
| ENST00000265619.6:n.861C>T | ||
| ENST00000395802.7:c.*5C>T | ENSP00000379147.3:n.*5C>T | |
| ENST00000463370.5:n.1011C>T | ||
| ENST00000475243.5:c.667C>T | ENSP00000417175.1:p.Arg223Trp | |
| ENST00000476395.1:n.2201C>T | ||
| ENST00000520497.1:c.*266C>T | ENSP00000430426.1:n.*266C>T | |
| NM_001195677.1:c.*5C>T | NP_001182606.1:n.*5C>T | |
| NM_004738.4:c.667C>T , LRG_656t1:c.667C>T | NP_004729.1:p.Arg223Trp | |
| NR_036633.1:n.823C>T | ||
| NM_001195677.2:c.*5C>T | NP_001182606.1:n.*5C>T | |
| NM_004738.5:c.667C>T MANE Select | NP_004729.1:p.Arg223Trp | |
| NR_036633.2:n.713C>T |