Revel Score:
ENST00000370396 (MANE Select)
0.885
ENST00000542741
0.885
ENST00000543350
0.885
ENST00000413012
0.885
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150645783A>C , CM000685.2:g.150645783A>C | GRCh38 |
| NC_000023.10:g.149814256A>C , CM000685.1:g.149814256A>C | GRCh37 |
| NC_000023.9:g.149564914A>C | NCBI36 |
| NG_008199.1:g.82210A>C , LRG_839:g.82210A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684910.1:c.*312A>C | ENSP00000509844.1:n.*312A>C | |
| ENST00000685439.1:c.434A>C | ENSP00000508454.1:p.Tyr145Ser | |
| ENST00000685944.1:c.779A>C | ENSP00000509266.1:p.Tyr260Ser | |
| ENST00000686212.1:n.381A>C | ||
| ENST00000687215.1:c.*534A>C | ENSP00000509706.1:n.*534A>C | |
| ENST00000688152.1:c.*223A>C | ENSP00000509360.1:n.*223A>C | |
| ENST00000688403.1:c.35A>C | ENSP00000508944.1:p.Tyr12Ser | |
| ENST00000689314.1:c.824A>C | ENSP00000510607.1:p.Tyr275Ser | |
| ENST00000689694.1:c.779A>C | ENSP00000508718.1:p.Tyr260Ser | |
| ENST00000689810.1:c.*428A>C | ENSP00000510635.1:n.*428A>C | |
| ENST00000690282.1:c.35A>C | ENSP00000509809.1:p.Tyr12Ser | |
| ENST00000690351.1:c.*431A>C | ENSP00000509728.1:n.*431A>C | |
| ENST00000691232.1:c.434A>C | ENSP00000509675.1:p.Tyr145Ser | |
| ENST00000691482.1:n.1794A>C | ||
| ENST00000691686.1:c.779A>C | ENSP00000509784.1:p.Tyr260Ser | |
| ENST00000691851.1:c.779A>C | ENSP00000510106.1:p.Tyr260Ser | |
| ENST00000692015.1:c.566A>C | ENSP00000510634.1:p.Tyr189Ser | |
| ENST00000692638.1:c.*584A>C | ENSP00000509412.1:n.*584A>C | |
| ENST00000692852.1:c.679-3933A>C | ENSP00000510337.1:n.679-3933A>C | |
| ENST00000692915.1:c.*986A>C | ENSP00000508547.1:n.*986A>C | |
| ENST00000370396.7:c.779A>C MANE Select | ENSP00000359423.3:p.Tyr260Ser | |
| ENST00000306167.11:n.646A>C | ||
| ENST00000370396.6:c.779A>C | ENSP00000359423.2:p.Tyr260Ser | |
| ENST00000490530.1:n.718A>C | ||
| NM_000252.2:c.779A>C , LRG_839t1:c.779A>C | NP_000243.1:p.Tyr260Ser | |
| XM_005274687.2:c.779A>C | XP_005274744.1:p.Tyr260Ser | |
| XM_011531170.1:c.845A>C | XP_011529472.1:p.Tyr282Ser | |
| XM_011531171.1:c.824A>C | XP_011529473.1:p.Tyr275Ser | |
| XM_011531172.1:c.824A>C | XP_011529474.1:p.Tyr275Ser | |
| XM_011531173.1:c.779A>C | XP_011529475.1:p.Tyr260Ser | |
| XM_011531173.2:c.779A>C | XP_011529475.1:p.Tyr260Ser | |
| XM_017029547.1:c.824A>C | XP_016885036.1:p.Tyr275Ser | |
| XM_017029548.1:c.824A>C | XP_016885037.1:p.Tyr275Ser | |
| XM_017029549.1:c.779A>C | XP_016885038.1:p.Tyr260Ser | |
| XM_017029550.1:c.668A>C | XP_016885039.1:p.Tyr223Ser | |
| XM_017029551.2:c.35A>C | XP_016885040.1:p.Tyr12Ser | |
| NM_000252.3:c.779A>C MANE Select | NP_000243.1:p.Tyr260Ser | |
| NM_001376906.1:c.779A>C | NP_001363835.1:p.Tyr260Ser | |
| NM_001376907.1:c.668A>C | NP_001363836.1:p.Tyr223Ser | |
| NM_001376908.1:c.779A>C | NP_001363837.1:p.Tyr260Ser |