Revel Score:
ENST00000212015 (MANE Select)
0.272
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00292879 (AFR)
Genomes Max Group AF
0.00279946 (AFR)
Exomes Max Group AF
0.00278923 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67887495A>G , CM000672.2:g.67887495A>G | GRCh38 |
| NC_000010.10:g.69647253A>G , CM000672.1:g.69647253A>G | GRCh37 |
| NC_000010.9:g.69317259A>G | NCBI36 |
| NG_050664.1:g.7834A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000212015.11:c.509A>G MANE Select | ENSP00000212015.6:p.His170Arg | |
| ENST00000212015.10:c.509A>G | ENSP00000212015.6:p.His170Arg | |
| ENST00000432464.5:c.-135A>G | ENSP00000409208.1:n.-135A>G | |
| ENST00000473922.1:n.295A>G | ||
| ENST00000497639.5:n.298A>G | ||
| NM_001142498.1:c.-135A>G | NP_001135970.1:n.-135A>G | |
| NM_012238.4:c.509A>G | NP_036370.2:p.His170Arg | |
| XM_006717737.2:c.509A>G | XP_006717800.1:p.His170Arg | |
| XM_011539561.1:c.-68A>G | XP_011537863.1:n.-68A>G | |
| NM_012238.5:c.509A>G MANE Select | NP_036370.2:p.His170Arg | |
| NM_001142498.2:c.-135A>G | NP_001135970.1:n.-135A>G |