Revel Score:
ENST00000468826
0.500
ENST00000216361
0.673
ENST00000396618 (MANE Select)
0.673
ENST00000475087
0.673
ENST00000556908
0.673
ENST00000555881
0.673
ENST00000460581
0.673
ENST00000542225
0.673
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002104 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30880641G>A , CM000676.2:g.30880641G>A | GRCh38 |
| NC_000014.8:g.31349847G>A , CM000676.1:g.31349847G>A | GRCh37 |
| NC_000014.7:g.30419598G>A | NCBI36 |
| NG_008211.2:g.11107G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216361.9:c.731G>A | ENSP00000216361.5:p.Arg244His | |
| ENST00000396618.9:c.536G>A MANE Select | ENSP00000379862.3:p.Arg179His | |
| ENST00000555117.2:c.536G>A | ENSP00000493569.1:p.Arg179His | |
| ENST00000643575.1:c.536G>A | ENSP00000494838.1:p.Arg179His | |
| ENST00000643697.1:n.781G>A | ||
| ENST00000644874.2:c.536G>A | ENSP00000496360.1:p.Arg179His | |
| ENST00000216361.8:c.536G>A | ENSP00000216361.4:p.Arg179His | |
| ENST00000396618.7:c.536G>A | ENSP00000379862.3:p.Arg179His | |
| ENST00000460581.6:c.200G>A | ENSP00000451713.1:p.Arg67His | |
| ENST00000468826.2:c.55G>A | ||
| ENST00000475087.5:c.536G>A | ENSP00000451528.1:p.Arg179His | |
| ENST00000553772.5:c.*96G>A | ENSP00000452343.1:n.*96G>A | |
| ENST00000555881.5:c.182G>A | ENSP00000452569.1:p.Arg61His | |
| ENST00000556908.5:c.488G>A | ENSP00000452541.1:p.Arg163His | |
| ENST00000557065.1:c.318G>A | ENSP00000451629.1:n.318G>A | |
| NM_001135058.1:c.536G>A | NP_001128530.1:p.Arg179His | |
| NM_004086.2:c.536G>A | NP_004077.1:p.Arg179His | |
| NR_038356.1:n.1617+3869C>T | ||
| XM_011536539.1:c.536G>A | XP_011534841.1:p.Arg179His | |
| NM_001347720.1:c.731G>A | NP_001334649.1:p.Arg244His | |
| XM_017021071.1:c.731G>A | XP_016876560.1:p.Arg244His | |
| XM_024449506.1:c.536G>A | XP_024305274.1:p.Arg179His | |
| NM_004086.3:c.536G>A MANE Select | NP_004077.1:p.Arg179His | |
| NM_001135058.2:c.536G>A | NP_001128530.1:p.Arg179His | |
| NM_001347720.2:c.731G>A | NP_001334649.1:p.Arg244His |