Revel Score:
ENST00000267415 (MANE Select)
0.460
ENST00000540705
0.460
ENST00000399423
0.460
ENST00000538777
0.460
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240617A>C , CM000676.2:g.24240617A>C | GRCh38 |
| NC_000014.8:g.24709823A>C , CM000676.1:g.24709823A>C | GRCh37 |
| NC_000014.7:g.23779663A>C | NCBI36 |
| NG_016650.1:g.7058T>G | |
| NG_054634.1:g.13201A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1166T>G | ||
| ENST00000557921.3:c.755T>G | ENSP00000453157.3:p.Phe252Cys | |
| ENST00000699682.1:n.1253T>G | ||
| ENST00000699683.1:n.1303T>G | ||
| ENST00000699684.1:c.*456T>G | ENSP00000514523.1:n.*456T>G | |
| ENST00000699685.1:n.1067T>G | ||
| ENST00000699686.1:c.656T>G | ENSP00000514524.1:p.Phe219Cys | |
| ENST00000699687.1:c.758T>G | ENSP00000514525.1:p.Phe253Cys | |
| ENST00000699688.1:n.1063T>G | ||
| ENST00000699689.1:n.1419T>G | ||
| ENST00000699690.1:n.1616T>G | ||
| ENST00000699691.1:n.1760T>G | ||
| ENST00000699693.1:n.1280T>G | ||
| ENST00000699694.1:n.1522T>G | ||
| ENST00000699695.1:c.*235T>G | ENSP00000514526.1:n.*235T>G | |
| ENST00000699696.1:n.1166T>G | ||
| ENST00000699697.1:c.863T>G | ENSP00000514527.1:p.Phe288Cys | |
| ENST00000699698.1:n.784T>G | ||
| ENST00000699699.1:n.1187T>G | ||
| ENST00000699700.1:n.1310T>G | ||
| ENST00000699701.1:c.*243T>G | ENSP00000514528.1:n.*243T>G | |
| ENST00000267415.12:c.863T>G MANE Select | ENSP00000267415.7:p.Phe288Cys | |
| ENST00000557921.2:c.755T>G | ENSP00000453157.2:p.Phe252Cys | |
| ENST00000646753.1:c.758T>G | ENSP00000494065.1:p.Phe253Cys | |
| ENST00000267415.11:c.863T>G | ENSP00000267415.7:p.Phe288Cys | |
| ENST00000399423.8:c.863T>G | ENSP00000382350.4:p.Phe288Cys | |
| ENST00000558476.5:c.425T>G | ENSP00000452724.1:p.Phe142Cys | |
| ENST00000558566.1:c.*235T>G | ENSP00000453025.1:n.*235T>G | |
| ENST00000559019.1:c.*235T>G | ENSP00000453675.1:n.*235T>G | |
| ENST00000559549.1:n.589T>G | ||
| ENST00000559969.5:c.757+62T>G | ||
| ENST00000626689.2:c.*235T>G | ENSP00000486681.1:n.*235T>G | |
| NM_001099274.1:c.863T>G | NP_001092744.1:p.Phe288Cys | |
| NM_012461.2:c.863T>G | NP_036593.2:p.Phe288Cys | |
| XM_005267528.2:c.863T>G | XP_005267585.1:p.Phe288Cys | |
| XM_005267529.2:c.758T>G | XP_005267586.1:p.Phe253Cys | |
| NM_001099274.2:c.863T>G | NP_001092744.1:p.Phe288Cys | |
| NM_001363668.1:c.758T>G | NP_001350597.1:p.Phe253Cys | |
| NM_012461.3:c.863T>G | NP_036593.2:p.Phe288Cys | |
| XM_011536642.2:c.*243T>G | XP_011534944.1:n.*243T>G | |
| XM_017021216.2:c.221T>G | XP_016876705.1:p.Phe74Cys | |
| XM_017021217.1:c.221T>G | XP_016876706.1:p.Phe74Cys | |
| NM_001099274.3:c.863T>G MANE Select | NP_001092744.1:p.Phe288Cys | |
| NM_001363668.2:c.758T>G | NP_001350597.1:p.Phe253Cys |