Revel Score:
ENST00000375244
0.739
ENST00000451343
0.739
ENST00000375247
0.739
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00879233 (AFR)
Genomes Max Group AF
0.00857026 (SAS)
Exomes Max Group AF
0.01074267 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32042125C>T , CM000668.2:g.32042125C>T | GRCh38 |
| NC_000006.11:g.32009902C>T , CM000668.1:g.32009902C>T | GRCh37 |
| NC_000006.10:g.32117881C>T | NCBI36 |
| NG_007941.2:g.8818C>T | |
| NG_008337.2:g.72250G>A | |
| NG_007941.3:g.8821C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644971.2:c.12356G>A MANE Select | ENSP00000496448.1:p.Arg4119His | |
| ENST00000647633.1:c.13097G>A | ENSP00000497649.1:p.Arg4366His | |
| ENST00000375244.7:c.12356G>A | ENSP00000364393.3:p.Arg4119His | |
| ENST00000451343.4:c.1643G>A | ENSP00000407685.1:p.Arg548His | |
| ENST00000490077.5:n.2183G>A | ||
| ENST00000611016.2:c.5510G>A | ENSP00000483409.1:p.Arg1837His | |
| NM_019105.6:c.12350G>A | NP_061978.6:p.Arg4117His | |
| NM_032470.3:c.1643G>A | NP_115859.2:p.Arg548His | |
| NM_001365276.1:c.12356G>A | NP_001352205.1:p.Arg4119His | |
| NM_019105.7:c.12350G>A | NP_061978.6:p.Arg4117His | |
| NM_001365276.2:c.12356G>A MANE Select | NP_001352205.1:p.Arg4119His | |
| NM_019105.8:c.12350G>A | NP_061978.6:p.Arg4117His | |
| NM_032470.4:c.1643G>A | NP_115859.2:p.Arg548His |