Revel Score:
ENST00000369413 (MANE Select)
0.046
ENST00000235547
0.046
ENST00000528909
0.046
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119514623C>G , CM000663.2:g.119514623C>G | GRCh38 |
| NC_000001.10:g.120057246C>G , CM000663.1:g.120057246C>G | GRCh37 |
| NC_000001.9:g.119858769C>G | NCBI36 |
| NG_050909.1:g.12512C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369413.8:c.1100C>G MANE Select | ENSP00000358421.3:p.Thr367Ser | |
| ENST00000369413.7:c.1100C>G | ENSP00000358421.3:p.Thr367Ser | |
| ENST00000528909.1:c.1100C>G | ENSP00000432268.1:p.Thr367Ser | |
| NM_000862.2:c.1100C>G | NP_000853.1:p.Thr367Ser | |
| XM_011541314.1:c.1106C>G | XP_011539616.1:p.Thr369Ser | |
| NM_001328615.1:c.1100C>G | NP_001315544.1:p.Thr367Ser | |
| NM_000862.3:c.1100C>G MANE Select | NP_000853.1:p.Thr367Ser |