Revel Score:
ENST00000409401
0.008
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00323095 (NFE)
Genomes Max Group AF
0.00309256 (NFE)
Exomes Max Group AF
0.00322007 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232130729T>G , CM000664.2:g.232130729T>G | GRCh38 |
| NC_000002.11:g.232995439T>G , CM000664.1:g.232995439T>G | GRCh37 |
| NC_000002.10:g.232703683T>G | NCBI36 |
| NG_032572.1:g.174147T>G , LRG_534:g.174147T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325385.12:c.702+10T>G MANE Select | ENSP00000315569.7:n.702+10T>G | |
| ENST00000273009.10:c.702+10T>G | ENSP00000273009.6:n.702+10T>G | |
| ENST00000325385.11:c.702+10T>G | ENSP00000315569.7:n.702+10T>G | |
| ENST00000390005.9:c.702+10T>G | ENSP00000374655.5:n.702+10T>G | |
| ENST00000409307.5:c.702+10T>G | ENSP00000386799.1:n.702+10T>G | |
| ENST00000409401.7:c.712T>G | ENSP00000386594.3:p.Tyr238Asp | |
| ENST00000433430.5:c.761+10T>G | ENSP00000391175.1:n.761+10T>G | |
| ENST00000445090.5:c.712T>G | ENSP00000388999.1:p.Tyr238Asp | |
| ENST00000470087.1:n.702T>G | ||
| NM_001257281.1:c.702+10T>G | NP_001244210.1:n.702+10T>G | |
| NM_001257282.1:c.712T>G | NP_001244211.1:p.Tyr238Asp | |
| NM_152383.4:c.702+10T>G , LRG_534t1:c.702+10T>G | NP_689596.4:n.702+10T>G | |
| NR_046476.1:n.978+10T>G | ||
| NR_046477.1:n.988T>G | ||
| NM_001257281.2:c.702+10T>G | NP_001244210.1:n.702+10T>G | |
| NM_152383.5:c.702+10T>G MANE Select | NP_689596.4:n.702+10T>G | |
| NR_046476.2:n.848+10T>G | ||
| NR_046477.2:n.858T>G | ||
| NM_001257282.2:c.712T>G | NP_001244211.1:p.Tyr238Asp |