Revel Score:
ENST00000216373 (MANE Select)
0.368
ENST00000543680
0.368
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50161551G>C , CM000676.2:g.50161551G>C | GRCh38 |
| NC_000014.8:g.50628269G>C , CM000676.1:g.50628269G>C | GRCh37 |
| NC_000014.7:g.49698019G>C | NCBI36 |
| NG_051073.1:g.75143C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.1127C>G MANE Select | ENSP00000216373.5:p.Thr376Ser | |
| ENST00000216373.9:c.1127C>G | ENSP00000216373.5:p.Thr376Ser | |
| ENST00000543680.5:c.1028C>G | ENSP00000445328.1:p.Thr343Ser | |
| ENST00000555794.2:c.241C>G | ||
| NM_006939.2:c.1127C>G | NP_008870.2:p.Thr376Ser | |
| XM_005268021.1:c.947C>G | XP_005268078.1:p.Thr316Ser | |
| XM_011537103.1:c.1088C>G | XP_011535405.1:p.Thr363Ser | |
| XM_011537104.1:c.1127C>G | XP_011535406.1:p.Thr376Ser | |
| NM_006939.3:c.1127C>G | NP_008870.2:p.Thr376Ser | |
| NM_006939.4:c.1127C>G MANE Select | NP_008870.2:p.Thr376Ser |