Revel Score:
ENST00000370396 (MANE Select)
0.512
ENST00000542741
0.512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150614658A>G , CM000685.2:g.150614658A>G | GRCh38 |
| NC_000023.10:g.149783131A>G , CM000685.1:g.149783131A>G | GRCh37 |
| NC_000023.9:g.149533789A>G | NCBI36 |
| NG_008199.1:g.51085A>G , LRG_839:g.51085A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684910.1:c.136+18088A>G | ENSP00000509844.1:n.136+18088A>G | |
| ENST00000685439.1:c.-3-4380A>G | ENSP00000508454.1:n.-3-4380A>G | |
| ENST00000685944.1:c.301A>G | ENSP00000509266.1:p.Ser101Gly | |
| ENST00000687215.1:c.16A>G | ENSP00000509706.1:p.Ser6Gly | |
| ENST00000687365.1:n.356A>G | ||
| ENST00000688152.1:c.301A>G | ENSP00000509360.1:p.Ser101Gly | |
| ENST00000688403.1:c.-300-24285A>G | ENSP00000508944.1:n.-300-24285A>G | |
| ENST00000689314.1:c.346A>G | ENSP00000510607.1:p.Ser116Gly | |
| ENST00000689694.1:c.301A>G | ENSP00000508718.1:p.Ser101Gly | |
| ENST00000689810.1:c.301A>G | ENSP00000510635.1:p.Ser101Gly | |
| ENST00000690282.1:c.-300-24285A>G | ENSP00000509809.1:n.-300-24285A>G | |
| ENST00000690351.1:c.137-4380A>G | ENSP00000509728.1:n.137-4380A>G | |
| ENST00000691232.1:c.-3-4380A>G | ENSP00000509675.1:n.-3-4380A>G | |
| ENST00000691686.1:c.301A>G | ENSP00000509784.1:p.Ser101Gly | |
| ENST00000691851.1:c.301A>G | ENSP00000510106.1:p.Ser101Gly | |
| ENST00000692015.1:c.231+15972A>G | ENSP00000510634.1:n.231+15972A>G | |
| ENST00000692638.1:c.*50A>G | ENSP00000509412.1:n.*50A>G | |
| ENST00000692852.1:c.301A>G | ENSP00000510337.1:p.Ser101Gly | |
| ENST00000692915.1:c.*296A>G | ENSP00000508547.1:n.*296A>G | |
| ENST00000370396.7:c.301A>G MANE Select | ENSP00000359423.3:p.Ser101Gly | |
| ENST00000306167.11:n.260-4430A>G | ||
| ENST00000370396.6:c.301A>G | ENSP00000359423.2:p.Ser101Gly | |
| ENST00000424519.1:c.231+15972A>G | ENSP00000400699.1:n.231+15972A>G | |
| ENST00000490530.1:n.240A>G | ||
| NM_000252.2:c.301A>G , LRG_839t1:c.301A>G | NP_000243.1:p.Ser101Gly | |
| XM_005274687.2:c.301A>G | XP_005274744.1:p.Ser101Gly | |
| XM_011531170.1:c.367A>G | XP_011529472.1:p.Ser123Gly | |
| XM_011531171.1:c.346A>G | XP_011529473.1:p.Ser116Gly | |
| XM_011531172.1:c.346A>G | XP_011529474.1:p.Ser116Gly | |
| XM_011531173.1:c.301A>G | XP_011529475.1:p.Ser101Gly | |
| XM_011531173.2:c.301A>G | XP_011529475.1:p.Ser101Gly | |
| XM_017029547.1:c.346A>G | XP_016885036.1:p.Ser116Gly | |
| XM_017029548.1:c.346A>G | XP_016885037.1:p.Ser116Gly | |
| XM_017029549.1:c.301A>G | XP_016885038.1:p.Ser101Gly | |
| XM_017029550.1:c.232-4380A>G | XP_016885039.1:n.232-4380A>G | |
| NM_000252.3:c.301A>G MANE Select | NP_000243.1:p.Ser101Gly | |
| NM_001376906.1:c.301A>G | NP_001363835.1:p.Ser101Gly | |
| NM_001376907.1:c.232-4380A>G | NP_001363836.1:n.232-4380A>G | |
| NM_001376908.1:c.301A>G | NP_001363837.1:p.Ser101Gly |