Revel Score:
ENST00000361874
0.127
ENST00000394003
0.127
ENST00000393999
0.127
ENST00000407639
0.127
ENST00000409438
0.127
ENST00000409240
0.127
ENST00000409868
0.127
ENST00000409567
0.127
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74363395G>A , CM000664.2:g.74363395G>A | GRCh38 |
| NC_000002.11:g.74590522G>A , CM000664.1:g.74590522G>A | GRCh37 |
| NC_000002.10:g.74444030G>A | NCBI36 |
| NG_008735.2:g.33693C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.3229C>T | ENSP00000354791.4:p.Pro1077Ser | |
| ENST00000628224.3:c.3244C>T MANE Select | ENSP00000487279.2:p.Pro1082Ser | |
| ENST00000680606.1:c.3193C>T | ENSP00000505612.1:p.Pro1065Ser | |
| ENST00000361874.7:c.3244C>T | ENSP00000354791.3:p.Pro1082Ser | |
| ENST00000394003.7:c.3223C>T | ENSP00000377571.3:p.Pro1075Ser | |
| ENST00000409240.5:c.3118C>T | ENSP00000386406.1:p.Pro1040Ser | |
| ENST00000409438.5:c.2827C>T | ENSP00000387270.1:p.Pro943Ser | |
| ENST00000409567.7:c.3169C>T | ENSP00000386843.3:p.Pro1057Ser | |
| ENST00000409868.5:c.3178C>T | ENSP00000387327.1:p.Pro1060Ser | |
| ENST00000434055.5:c.*528C>T | ENSP00000416711.1:n.*528C>T | |
| ENST00000466110.5:n.4481C>T | ||
| ENST00000491465.5:n.1507C>T | ||
| ENST00000497666.1:n.97-1858C>T | ||
| ENST00000628224.2:c.3178C>T | ENSP00000487279.1:p.Pro1060Ser | |
| ENST00000633691.1:c.2842C>T | ENSP00000487724.1:p.Pro948Ser | |
| NM_001135040.2:c.3169C>T | NP_001128512.1:p.Pro1057Ser | |
| NM_001135041.2:c.2827C>T | NP_001128513.1:p.Pro943Ser | |
| NM_001190836.1:c.3118C>T | NP_001177765.1:p.Pro1040Ser | |
| NM_001190837.1:c.3223C>T | NP_001177766.1:p.Pro1075Ser | |
| NM_004082.4:c.3244C>T | NP_004073.2:p.Pro1082Ser | |
| NM_023019.3:c.2842C>T | NP_075408.1:p.Pro948Ser | |
| NR_033935.1:n.3513C>T | ||
| NM_001135040.3:c.3169C>T | NP_001128512.1:p.Pro1057Ser | |
| NM_001135041.3:c.2827C>T | NP_001128513.1:p.Pro943Ser | |
| NM_001190836.2:c.3118C>T | NP_001177765.1:p.Pro1040Ser | |
| NM_001190837.2:c.3223C>T | NP_001177766.1:p.Pro1075Ser | |
| NM_001378991.1:c.3193C>T | NP_001365920.1:p.Pro1065Ser | |
| NM_001378992.1:c.3175C>T | NP_001365921.1:p.Pro1059Ser | |
| NM_004082.5:c.3244C>T MANE Select | NP_004073.2:p.Pro1082Ser | |
| NM_023019.4:c.2842C>T | NP_075408.1:p.Pro948Ser | |
| NR_033935.2:n.3292C>T |