Revel Score:
ENST00000308159 (MANE Select)
0.778
ENST00000542526
0.778
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00017172 (NFE)
Genomes Max Group AF
0.00018202 (NFE)
Exomes Max Group AF
0.00016605 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56834768G>T , CM000678.2:g.56834768G>T | GRCh38 |
| NC_000016.9:g.56868680G>T , CM000678.1:g.56868680G>T | GRCh37 |
| NC_000016.8:g.55426181G>T | NCBI36 |
| NG_052904.1:g.109664G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308159.10:c.1772G>T MANE Select | ENSP00000310668.5:p.Gly591Val | |
| ENST00000308159.9:c.1772G>T | ENSP00000310668.5:p.Gly591Val | |
| ENST00000542526.5:c.1403G>T | ENSP00000440235.1:p.Gly468Val | |
| ENST00000564887.5:c.1403G>T | ENSP00000458039.1:p.Gly468Val | |
| ENST00000569842.5:c.1772G>T | ENSP00000458101.1:p.Gly591Val | |
| NM_001242795.1:c.1403G>T | NP_001229724.1:p.Gly468Val | |
| NM_001242796.1:c.1403G>T | NP_001229725.1:p.Gly468Val | |
| NM_014669.4:c.1772G>T | NP_055484.3:p.Gly591Val | |
| XM_005256263.2:c.1772G>T | XP_005256320.1:p.Gly591Val | |
| NM_001242796.2:c.1403G>T | NP_001229725.1:p.Gly468Val | |
| XM_005256263.3:c.1772G>T | XP_005256320.1:p.Gly591Val | |
| NM_014669.5:c.1772G>T MANE Select | NP_055484.3:p.Gly591Val | |
| NM_001242795.2:c.1403G>T | NP_001229724.1:p.Gly468Val |