Revel Score:
ENST00000406846 (MANE Select)
0.572
ENST00000346173
0.572
ENST00000304421
0.572
ENST00000541117
0.572
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48963475G>C , CM000664.2:g.48963475G>C | GRCh38 |
| NC_000002.11:g.49190614G>C , CM000664.1:g.49190614G>C | GRCh37 |
| NC_000002.10:g.49044118G>C | NCBI36 |
| NG_008146.1:g.196017C>G , LRG_536:g.196017C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406846.7:c.1346C>G MANE Select | ENSP00000384708.2:p.Thr449Ser | |
| ENST00000304421.8:c.1268C>G | ENSP00000306780.4:p.Thr423Ser | |
| ENST00000406846.6:c.1346C>G | ENSP00000384708.2:p.Thr449Ser | |
| NM_000145.3:c.1346C>G , LRG_536t1:c.1346C>G | NP_000136.2:p.Thr449Ser | |
| NM_181446.2:c.1268C>G | NP_852111.2:p.Thr423Ser | |
| XM_011532733.1:c.1448C>G | XP_011531035.1:p.Thr483Ser | |
| XM_011532734.1:c.1115C>G | XP_011531036.1:p.Thr372Ser | |
| XM_011532735.1:c.554C>G | XP_011531037.1:p.Thr185Ser | |
| XM_011532736.1:c.554C>G | XP_011531038.1:p.Thr185Ser | |
| XM_011532737.1:c.956+5223C>G | XP_011531039.1:n.956+5223C>G | |
| XM_011532738.1:c.956+5223C>G | XP_011531040.1:n.956+5223C>G | |
| XM_011532739.1:c.956+5223C>G | XP_011531041.1:n.956+5223C>G | |
| XM_011532733.2:c.1448C>G | XP_011531035.1:p.Thr483Ser | |
| XM_011532734.2:c.1115C>G | XP_011531036.1:p.Thr372Ser | |
| XM_011532735.2:c.554C>G | XP_011531037.1:p.Thr185Ser | |
| XM_011532736.2:c.554C>G | XP_011531038.1:p.Thr185Ser | |
| NM_000145.4:c.1346C>G MANE Select | NP_000136.2:p.Thr449Ser | |
| NM_181446.3:c.1268C>G | NP_852111.2:p.Thr423Ser |