Revel Score:
ENST00000302850 (MANE Select)
0.644
ENST00000341500
0.644
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00301026 (EAS)
Genomes Max Group AF
0.0003803 (EAS)
Exomes Max Group AF
0.00328469 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7117123T>C , CM000681.2:g.7117123T>C | GRCh38 |
| NC_000019.9:g.7117134T>C , CM000681.1:g.7117134T>C | GRCh37 |
| NC_000019.8:g.7068134T>C | NCBI36 |
| NG_008852.2:g.181878A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.4082A>G MANE Select | ENSP00000303830.4:p.Tyr1361Cys | |
| ENST00000302850.9:c.4082A>G | ENSP00000303830.4:p.Tyr1361Cys | |
| ENST00000341500.9:c.4046A>G | ENSP00000342838.4:p.Tyr1349Cys | |
| NM_000208.2:c.4082A>G | NP_000199.2:p.Tyr1361Cys | |
| NM_000208.3:c.4082A>G | NP_000199.2:p.Tyr1361Cys | |
| NM_001079817.1:c.4046A>G | NP_001073285.1:p.Tyr1349Cys | |
| NM_001079817.2:c.4046A>G | NP_001073285.1:p.Tyr1349Cys | |
| XM_011527988.1:c.4157A>G | XP_011526290.1:p.Tyr1386Cys | |
| XM_011527989.1:c.4121A>G | XP_011526291.1:p.Tyr1374Cys | |
| XM_011527988.2:c.4079A>G | XP_011526290.2:p.Tyr1360Cys | |
| XM_011527989.3:c.4043A>G | XP_011526291.2:p.Tyr1348Cys | |
| NM_000208.4:c.4082A>G MANE Select | NP_000199.2:p.Tyr1361Cys | |
| NM_001079817.3:c.4046A>G | NP_001073285.1:p.Tyr1349Cys |