Revel Score:
ENST00000402696 (MANE Select)
0.587
ENST00000264998
0.587
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133777188G>T , CM000665.2:g.133777188G>T | GRCh38 |
| NC_000003.11:g.133496032G>T , CM000665.1:g.133496032G>T | GRCh37 |
| NC_000003.10:g.134978722G>T | NCBI36 |
| NG_013080.1:g.36056G>T | |
| NG_013080.2:g.120191G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.2012G>T MANE Select | ENSP00000385834.3:p.Gly671Val | |
| ENST00000402696.7:c.2012G>T | ENSP00000385834.3:p.Gly671Val | |
| ENST00000461695.1:c.743G>T | ||
| ENST00000467842.1:n.3006G>T | ||
| NM_001063.3:c.2012G>T | NP_001054.1:p.Gly671Val | |
| XM_011513100.1:c.2012G>T | XP_011511402.1:p.Gly671Val | |
| NM_001354703.1:c.1880G>T | NP_001341632.1:p.Gly627Val | |
| NM_001354704.1:c.1631G>T | NP_001341633.1:p.Gly544Val | |
| NM_001063.4:c.2012G>T MANE Select | NP_001054.2:p.Gly671Val | |
| NM_001354703.2:c.1880G>T | NP_001341632.2:p.Gly627Val | |
| NM_001354704.2:c.1631G>T | NP_001341633.2:p.Gly544Val |