Revel Score:
ENST00000275532
0.794
ENST00000443322
0.794
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66639189A>G , CM000669.2:g.66639189A>G | GRCh38 |
| NC_000007.13:g.66104176A>G , CM000669.1:g.66104176A>G | GRCh37 |
| NC_000007.12:g.65741611A>G | NCBI36 |
| NG_028110.1:g.15309A>G | |
| NG_028110.2:g.15309A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275532.8:c.*10A>G | ENSP00000275532.4:n.*10A>G | |
| ENST00000449064.6:c.505+260A>G | ||
| ENST00000503687.2:c.397+260A>G | ENSP00000421074.1:n.397+260A>G | |
| ENST00000638524.1:c.652A>G | ||
| ENST00000638540.1:c.631A>G | ||
| ENST00000639828.2:c.827A>G MANE Select | ENSP00000492240.1:p.Tyr276Cys | |
| ENST00000639879.1:c.*690A>G | ENSP00000492161.1:n.*690A>G | |
| ENST00000640234.1:c.437+260A>G | ||
| ENST00000640385.1:c.827A>G | ENSP00000491193.1:p.Tyr276Cys | |
| ENST00000640601.1:c.334A>G | ||
| ENST00000640851.1:c.629A>G | ENSP00000492577.1:p.Tyr210Cys | |
| ENST00000275532.7:c.827A>G | ENSP00000275532.3:p.Tyr276Cys | |
| ENST00000443322.1:c.827A>G | ENSP00000411624.1:p.Tyr276Cys | |
| ENST00000503687.1:c.397+260A>G | ENSP00000421074.1:n.397+260A>G | |
| NM_001167961.2:c.827A>G | NP_001161433.1:p.Tyr276Cys | |
| NM_153033.4:c.827A>G | NP_694578.1:p.Tyr276Cys | |
| NM_153033.5:c.827A>G MANE Select | NP_694578.1:p.Tyr276Cys |