Revel Score:
ENST00000375244
0.080
ENST00000375247
0.080
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003628 (SAS)
Exomes Max Group AF
0.00003029 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32082290T>A , CM000668.2:g.32082290T>A | GRCh38 |
| NC_000006.11:g.32050067T>A , CM000668.1:g.32050067T>A | GRCh37 |
| NC_000006.10:g.32158045T>A | NCBI36 |
| NG_008337.2:g.32085A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644971.2:c.3482A>T MANE Select | ENSP00000496448.1:p.His1161Leu | |
| ENST00000647633.1:c.4223A>T | ENSP00000497649.1:p.His1408Leu | |
| ENST00000375244.7:c.3482A>T | ENSP00000364393.3:p.His1161Leu | |
| ENST00000613214.4:c.3743A>T | ENSP00000480067.1:p.His1248Leu | |
| NM_019105.6:c.3482A>T | NP_061978.6:p.His1161Leu | |
| NM_001365276.1:c.3482A>T | NP_001352205.1:p.His1161Leu | |
| NM_019105.7:c.3482A>T | NP_061978.6:p.His1161Leu | |
| NM_001365276.2:c.3482A>T MANE Select | NP_001352205.1:p.His1161Leu | |
| NM_019105.8:c.3482A>T | NP_061978.6:p.His1161Leu |