Revel Score:
ENST00000475243 (MANE Select)
0.421
ENST00000395802
0.201
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00054168 (MID)
Exomes Max Group AF
0.00056862 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58444159G>T , CM000682.2:g.58444159G>T | GRCh38 |
| NC_000020.10:g.57019215G>T , CM000682.1:g.57019215G>T | GRCh37 |
| NC_000020.9:g.56452621G>T | NCBI36 |
| NG_008073.2:g.59971G>T , LRG_656:g.59971G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475243.6:c.656G>T MANE Select | ENSP00000417175.1:p.Gly219Val | |
| ENST00000265619.6:n.850G>T | ||
| ENST00000395802.7:c.294G>T | ENSP00000379147.3:p.Arg98Ser | |
| ENST00000463370.5:n.1000G>T | ||
| ENST00000475243.5:c.656G>T | ENSP00000417175.1:p.Gly219Val | |
| ENST00000476395.1:n.2190G>T | ||
| ENST00000520497.1:c.*255G>T | ENSP00000430426.1:n.*255G>T | |
| NM_001195677.1:c.294G>T | NP_001182606.1:p.Arg98Ser | |
| NM_004738.4:c.656G>T , LRG_656t1:c.656G>T | NP_004729.1:p.Gly219Val | |
| NR_036633.1:n.812G>T | ||
| NM_001195677.2:c.294G>T | NP_001182606.1:p.Arg98Ser | |
| NM_004738.5:c.656G>T MANE Select | NP_004729.1:p.Gly219Val | |
| NR_036633.2:n.702G>T |