Revel Score:
ENST00000545712 (MANE Select)
0.914
ENST00000266839
0.914
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012265 (AFR)
Genomes Max Group AF
0.00007866 (AFR)
Exomes Max Group AF
0.00011838 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109557125T>C , CM000674.2:g.109557125T>C | GRCh38 |
| NC_000012.11:g.109994930T>C , CM000674.1:g.109994930T>C | GRCh37 |
| NC_000012.10:g.108479313T>C | NCBI36 |
| NG_007096.1:g.21373A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.656A>G MANE Select | ENSP00000445920.1:p.Tyr219Cys | |
| ENST00000537496.5:c.*221A>G | ENSP00000444793.1:n.*221A>G | |
| ENST00000540016.5:c.500A>G | ENSP00000474582.1:p.Tyr167Cys | |
| ENST00000541763.6:c.881A>G | ENSP00000474981.1:n.881A>G | |
| ENST00000544051.5:c.*537A>G | ENSP00000438079.1:n.*537A>G | |
| ENST00000545712.6:c.656A>G | ENSP00000445920.1:p.Tyr219Cys | |
| NM_052845.3:c.656A>G | NP_443077.1:p.Tyr219Cys | |
| NR_038118.1:n.816A>G | ||
| XM_011538266.1:c.*3A>G | XP_011536568.1:n.*3A>G | |
| XM_011538267.1:c.*3A>G | XP_011536569.1:n.*3A>G | |
| XM_011538268.1:c.383A>G | XP_011536570.1:p.Tyr128Cys | |
| XM_011538269.1:c.380A>G | XP_011536571.1:p.Tyr127Cys | |
| XM_011538267.3:c.*3A>G | XP_011536569.1:n.*3A>G | |
| XM_011538268.2:c.383A>G | XP_011536570.1:p.Tyr128Cys | |
| XM_011538269.2:c.380A>G | XP_011536571.1:p.Tyr127Cys | |
| NM_052845.4:c.656A>G MANE Select | NP_443077.1:p.Tyr219Cys | |
| NR_038118.2:n.767A>G |