Revel Score:
ENST00000370396 (MANE Select)
0.929
ENST00000542741
0.929
ENST00000543350
0.929
ENST00000413012
0.929
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150657947G>C , CM000685.2:g.150657947G>C | GRCh38 |
| NC_000023.10:g.149826420G>C , CM000685.1:g.149826420G>C | GRCh37 |
| NC_000023.9:g.149577078G>C | NCBI36 |
| NG_008199.1:g.94374G>C , LRG_839:g.94374G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684910.1:c.*713G>C | ENSP00000509844.1:n.*713G>C | |
| ENST00000685439.1:c.835G>C | ENSP00000508454.1:p.Asp279His | |
| ENST00000685944.1:c.1180G>C | ENSP00000509266.1:p.Asp394His | |
| ENST00000686212.1:n.782G>C | ||
| ENST00000687215.1:c.*935G>C | ENSP00000509706.1:n.*935G>C | |
| ENST00000688152.1:c.*624G>C | ENSP00000509360.1:n.*624G>C | |
| ENST00000688403.1:c.436G>C | ENSP00000508944.1:p.Asp146His | |
| ENST00000689314.1:c.1225G>C | ENSP00000510607.1:p.Asp409His | |
| ENST00000689694.1:c.1180G>C | ENSP00000508718.1:p.Asp394His | |
| ENST00000689810.1:c.*829G>C | ENSP00000510635.1:n.*829G>C | |
| ENST00000690282.1:c.436G>C | ENSP00000509809.1:p.Asp146His | |
| ENST00000690351.1:c.*832G>C | ENSP00000509728.1:n.*832G>C | |
| ENST00000691232.1:c.835G>C | ENSP00000509675.1:p.Asp279His | |
| ENST00000691482.1:n.2195G>C | ||
| ENST00000691686.1:c.1180G>C | ENSP00000509784.1:p.Asp394His | |
| ENST00000691851.1:c.1053+8046G>C | ENSP00000510106.1:n.1053+8046G>C | |
| ENST00000692015.1:c.967G>C | ENSP00000510634.1:p.Asp323His | |
| ENST00000692638.1:c.*985G>C | ENSP00000509412.1:n.*985G>C | |
| ENST00000692852.1:c.991G>C | ENSP00000510337.1:p.Asp331His | |
| ENST00000692915.1:c.*1326G>C | ENSP00000508547.1:n.*1326G>C | |
| ENST00000370396.7:c.1180G>C MANE Select | ENSP00000359423.3:p.Asp394His | |
| ENST00000306167.11:n.1047G>C | ||
| ENST00000370396.6:c.1180G>C | ENSP00000359423.2:p.Asp394His | |
| NM_000252.2:c.1180G>C , LRG_839t1:c.1180G>C | NP_000243.1:p.Asp394His | |
| XM_005274687.2:c.1180G>C | XP_005274744.1:p.Asp394His | |
| XM_011531170.1:c.1246G>C | XP_011529472.1:p.Asp416His | |
| XM_011531171.1:c.1225G>C | XP_011529473.1:p.Asp409His | |
| XM_011531172.1:c.1225G>C | XP_011529474.1:p.Asp409His | |
| XM_011531173.1:c.1180G>C | XP_011529475.1:p.Asp394His | |
| XM_011531173.2:c.1180G>C | XP_011529475.1:p.Asp394His | |
| XM_017029547.1:c.1225G>C | XP_016885036.1:p.Asp409His | |
| XM_017029548.1:c.1225G>C | XP_016885037.1:p.Asp409His | |
| XM_017029549.1:c.1180G>C | XP_016885038.1:p.Asp394His | |
| XM_017029550.1:c.1069G>C | XP_016885039.1:p.Asp357His | |
| XM_017029551.2:c.436G>C | XP_016885040.1:p.Asp146His | |
| NM_000252.3:c.1180G>C MANE Select | NP_000243.1:p.Asp394His | |
| NM_001376906.1:c.1180G>C | NP_001363835.1:p.Asp394His | |
| NM_001376907.1:c.1069G>C | NP_001363836.1:p.Asp357His | |
| NM_001376908.1:c.1180G>C | NP_001363837.1:p.Asp394His |