Revel Score:
ENST00000406846 (MANE Select)
0.022
ENST00000346173
0.022
ENST00000304421
0.022
ENST00000541117
0.022
ENST00000454032
0.022
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48963902C>A , CM000664.2:g.48963902C>A | GRCh38 |
| NC_000002.11:g.49191041C>A , CM000664.1:g.49191041C>A | GRCh37 |
| NC_000002.10:g.49044545C>A | NCBI36 |
| NG_008146.1:g.195590G>T , LRG_536:g.195590G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406846.7:c.919G>T MANE Select | ENSP00000384708.2:p.Ala307Ser | |
| ENST00000304421.8:c.841G>T | ENSP00000306780.4:p.Ala281Ser | |
| ENST00000406846.6:c.919G>T | ENSP00000384708.2:p.Ala307Ser | |
| ENST00000454032.5:c.733G>T | ENSP00000415504.1:p.Ala245Ser | |
| NM_000145.3:c.919G>T , LRG_536t1:c.919G>T | NP_000136.2:p.Ala307Ser | |
| NM_181446.2:c.841G>T | NP_852111.2:p.Ala281Ser | |
| XM_011532733.1:c.1021G>T | XP_011531035.1:p.Ala341Ser | |
| XM_011532734.1:c.688G>T | XP_011531036.1:p.Ala230Ser | |
| XM_011532735.1:c.127G>T | XP_011531037.1:p.Ala43Ser | |
| XM_011532736.1:c.127G>T | XP_011531038.1:p.Ala43Ser | |
| XM_011532737.1:c.956+4796G>T | XP_011531039.1:n.956+4796G>T | |
| XM_011532738.1:c.956+4796G>T | XP_011531040.1:n.956+4796G>T | |
| XM_011532739.1:c.956+4796G>T | XP_011531041.1:n.956+4796G>T | |
| XM_011532733.2:c.1021G>T | XP_011531035.1:p.Ala341Ser | |
| XM_011532734.2:c.688G>T | XP_011531036.1:p.Ala230Ser | |
| XM_011532735.2:c.127G>T | XP_011531037.1:p.Ala43Ser | |
| XM_011532736.2:c.127G>T | XP_011531038.1:p.Ala43Ser | |
| NM_000145.4:c.919G>T MANE Select | NP_000136.2:p.Ala307Ser | |
| NM_181446.3:c.841G>T | NP_852111.2:p.Ala281Ser |