Revel Score:
ENST00000370396 (MANE Select)
0.941
ENST00000542741
0.941
ENST00000543350
0.941
ENST00000413012
0.941
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150657899G>A , CM000685.2:g.150657899G>A | GRCh38 |
| NC_000023.10:g.149826372G>A , CM000685.1:g.149826372G>A | GRCh37 |
| NC_000023.9:g.149577030G>A | NCBI36 |
| NG_008199.1:g.94326G>A , LRG_839:g.94326G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684910.1:c.*665G>A | ENSP00000509844.1:n.*665G>A | |
| ENST00000685439.1:c.787G>A | ENSP00000508454.1:p.Gly263Arg | |
| ENST00000685944.1:c.1132G>A | ENSP00000509266.1:p.Gly378Arg | |
| ENST00000686212.1:n.734G>A | ||
| ENST00000687215.1:c.*887G>A | ENSP00000509706.1:n.*887G>A | |
| ENST00000688152.1:c.*576G>A | ENSP00000509360.1:n.*576G>A | |
| ENST00000688403.1:c.388G>A | ENSP00000508944.1:p.Gly130Arg | |
| ENST00000689314.1:c.1177G>A | ENSP00000510607.1:p.Gly393Arg | |
| ENST00000689694.1:c.1132G>A | ENSP00000508718.1:p.Gly378Arg | |
| ENST00000689810.1:c.*781G>A | ENSP00000510635.1:n.*781G>A | |
| ENST00000690282.1:c.388G>A | ENSP00000509809.1:p.Gly130Arg | |
| ENST00000690351.1:c.*784G>A | ENSP00000509728.1:n.*784G>A | |
| ENST00000691232.1:c.787G>A | ENSP00000509675.1:p.Gly263Arg | |
| ENST00000691482.1:n.2147G>A | ||
| ENST00000691686.1:c.1132G>A | ENSP00000509784.1:p.Gly378Arg | |
| ENST00000691851.1:c.1053+7998G>A | ENSP00000510106.1:n.1053+7998G>A | |
| ENST00000692015.1:c.919G>A | ENSP00000510634.1:p.Gly307Arg | |
| ENST00000692638.1:c.*937G>A | ENSP00000509412.1:n.*937G>A | |
| ENST00000692852.1:c.943G>A | ENSP00000510337.1:p.Gly315Arg | |
| ENST00000692915.1:c.*1278G>A | ENSP00000508547.1:n.*1278G>A | |
| ENST00000370396.7:c.1132G>A MANE Select | ENSP00000359423.3:p.Gly378Arg | |
| ENST00000306167.11:n.999G>A | ||
| ENST00000370396.6:c.1132G>A | ENSP00000359423.2:p.Gly378Arg | |
| NM_000252.2:c.1132G>A , LRG_839t1:c.1132G>A | NP_000243.1:p.Gly378Arg | |
| XM_005274687.2:c.1132G>A | XP_005274744.1:p.Gly378Arg | |
| XM_011531170.1:c.1198G>A | XP_011529472.1:p.Gly400Arg | |
| XM_011531171.1:c.1177G>A | XP_011529473.1:p.Gly393Arg | |
| XM_011531172.1:c.1177G>A | XP_011529474.1:p.Gly393Arg | |
| XM_011531173.1:c.1132G>A | XP_011529475.1:p.Gly378Arg | |
| XM_011531173.2:c.1132G>A | XP_011529475.1:p.Gly378Arg | |
| XM_017029547.1:c.1177G>A | XP_016885036.1:p.Gly393Arg | |
| XM_017029548.1:c.1177G>A | XP_016885037.1:p.Gly393Arg | |
| XM_017029549.1:c.1132G>A | XP_016885038.1:p.Gly378Arg | |
| XM_017029550.1:c.1021G>A | XP_016885039.1:p.Gly341Arg | |
| XM_017029551.2:c.388G>A | XP_016885040.1:p.Gly130Arg | |
| NM_000252.3:c.1132G>A MANE Select | NP_000243.1:p.Gly378Arg | |
| NM_001376906.1:c.1132G>A | NP_001363835.1:p.Gly378Arg | |
| NM_001376907.1:c.1021G>A | NP_001363836.1:p.Gly341Arg | |
| NM_001376908.1:c.1132G>A | NP_001363837.1:p.Gly378Arg |