Revel Score:
ENST00000261584 (MANE Select)
0.038
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001064 (AFR)
Genomes Max Group AF
0.00001922 (AFR)
Exomes Max Group AF
0.00000852 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23603547T>C , CM000678.2:g.23603547T>C | GRCh38 |
| NC_000016.9:g.23614868T>C , CM000678.1:g.23614868T>C | GRCh37 |
| NC_000016.8:g.23522369T>C | NCBI36 |
| NG_007406.1:g.42811A>G , LRG_308:g.42811A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3479A>G | ENSP00000460666.3:p.His1160Arg | |
| ENST00000565038.2:c.*958A>G | ENSP00000459882.2:n.*958A>G | |
| ENST00000566069.6:c.*108A>G | ENSP00000459237.2:n.*108A>G | |
| ENST00000697377.2:c.3317A>G | ENSP00000513286.2:p.His1106Arg | |
| ENST00000697379.2:c.3479A>G | ENSP00000513287.2:p.His1160Arg | |
| ENST00000561514.2:c.2588A>G | ENSP00000460666.2:p.His863Arg | |
| ENST00000697374.1:c.2588A>G | ENSP00000513284.1:p.His863Arg | |
| ENST00000697375.1:n.4820A>G | ||
| ENST00000697376.1:c.*108A>G | ENSP00000513285.1:n.*108A>G | |
| ENST00000697377.1:c.2426A>G | ENSP00000513286.1:p.His809Arg | |
| ENST00000697378.1:n.3993A>G | ||
| ENST00000697379.1:c.2588A>G | ENSP00000513287.1:p.His863Arg | |
| ENST00000697380.1:n.2677A>G | ||
| ENST00000697381.1:n.2168A>G | ||
| ENST00000697382.1:c.*250A>G | ENSP00000513288.1:n.*250A>G | |
| ENST00000697383.1:c.1007A>G | ENSP00000513289.1:p.His336Arg | |
| ENST00000261584.9:c.3473A>G MANE Select | ENSP00000261584.4:p.His1158Arg | |
| ENST00000261584.8:c.3473A>G | ENSP00000261584.4:p.His1158Arg | |
| ENST00000566069.5:c.239A>G | ||
| ENST00000568219.5:c.2588A>G | ENSP00000454703.2:p.His863Arg | |
| NM_024675.3:c.3473A>G , LRG_308t1:c.3473A>G | NP_078951.2:p.His1158Arg | |
| XM_011545946.1:c.3479A>G | XP_011544248.1:p.His1160Arg | |
| XM_011545947.1:c.*108A>G | XP_011544249.1:n.*108A>G | |
| XM_011545948.1:c.2588A>G | XP_011544250.1:p.His863Arg | |
| XR_950851.1:n.4181A>G | ||
| XM_011545946.2:c.3479A>G | XP_011544248.1:p.His1160Arg | |
| XM_011545947.2:c.*108A>G | XP_011544249.1:n.*108A>G | |
| XM_011545948.2:c.2588A>G | XP_011544250.1:p.His863Arg | |
| XM_017023671.1:c.3242A>G | XP_016879160.1:p.His1081Arg | |
| XM_017023672.2:c.3236A>G | XP_016879161.1:p.His1079Arg | |
| XM_017023673.2:c.*108A>G | XP_016879162.1:n.*108A>G | |
| NM_024675.4:c.3473A>G MANE Select | NP_078951.2:p.His1158Arg |