Revel Score:
ENST00000308375
0.080
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007905 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00007861 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49721897T>C , CM000665.2:g.49721897T>C | GRCh38 |
| NC_000003.11:g.49759330T>C , CM000665.1:g.49759330T>C | GRCh37 |
| NC_000003.10:g.49734334T>C | NCBI36 |
| NG_011603.1:g.37341T>C | |
| NG_033731.1:g.7078A>G | |
| NG_033731.2:g.7078A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308388.7:c.952-14A>G MANE Select | ENSP00000311130.6:n.952-14A>G | |
| ENST00000481959.2:n.1525-14A>G | ||
| ENST00000495627.2:c.1060-14A>G | ENSP00000503768.1:n.1060-14A>G | |
| ENST00000677393.1:c.737-14A>G | ENSP00000503880.1:n.737-14A>G | |
| ENST00000678010.1:c.586-14A>G | ENSP00000503176.1:n.586-14A>G | |
| ENST00000678208.1:n.1386-14A>G | ||
| ENST00000678853.1:c.*243-14A>G | ENSP00000504692.1:n.*243-14A>G | |
| ENST00000308375.10:c.1019A>G | ENSP00000309092.6:p.Tyr340Cys | |
| ENST00000308388.6:c.952-14A>G | ENSP00000311130.6:n.952-14A>G | |
| ENST00000480687.5:c.952-14A>G | ENSP00000418565.1:n.952-14A>G | |
| NM_013334.3:c.1019A>G | NP_037466.2:p.Tyr340Cys | |
| NM_021971.2:c.952-14A>G | NP_068806.1:n.952-14A>G | |
| NM_021971.4:c.952-14A>G MANE Select | NP_068806.2:n.952-14A>G | |
| NM_013334.4:c.1019A>G | NP_037466.3:p.Tyr340Cys |