Revel Score:
ENST00000370192 (MANE Select)
0.750
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00024086 (EAS)
Genomes Max Group AF
0.0000683 (EAS)
Exomes Max Group AF
0.00023294 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97595107A>G , CM000663.2:g.97595107A>G | GRCh38 |
| NC_000001.10:g.98060663A>G , CM000663.1:g.98060663A>G | GRCh37 |
| NC_000001.9:g.97833251A>G | NCBI36 |
| NG_008807.2:g.330953T>C , LRG_722:g.330953T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.910T>C MANE Select | ENSP00000359211.3:p.Tyr304His | |
| ENST00000370192.7:c.910T>C | ENSP00000359211.3:p.Tyr304His | |
| NM_000110.3:c.910T>C , LRG_722t1:c.910T>C | NP_000101.2:p.Tyr304His | |
| XM_005270562.3:c.910T>C | XP_005270619.2:p.Tyr304His | |
| XM_006710397.2:c.910T>C | XP_006710460.1:p.Tyr304His | |
| XM_006710397.3:c.910T>C | XP_006710460.1:p.Tyr304His | |
| XM_017000507.1:c.799T>C | XP_016855996.1:p.Tyr267His | |
| XM_017000508.2:c.415T>C | XP_016855997.1:p.Tyr139His | |
| XM_017000509.2:c.415T>C | XP_016855998.1:p.Tyr139His | |
| XM_017000510.1:c.415T>C | XP_016855999.1:p.Tyr139His | |
| NM_000110.4:c.910T>C MANE Select | NP_000101.2:p.Tyr304His |