Revel Score:
ENST00000389048 (MANE Select)
0.346
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29223441G>C , CM000664.2:g.29223441G>C | GRCh38 |
| NC_000002.11:g.29446307G>C , CM000664.1:g.29446307G>C | GRCh37 |
| NC_000002.10:g.29299811G>C | NCBI36 |
| NG_009445.1:g.703126C>G , LRG_488:g.703126C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3260C>G MANE Select | ENSP00000373700.3:p.Thr1087Ser | |
| ENST00000431873.6:c.487C>G | ||
| ENST00000638605.1:n.137C>G | ||
| ENST00000642122.1:c.56C>G | ENSP00000493203.1:p.Thr19Ser | |
| ENST00000389048.7:c.3260C>G | ENSP00000373700.3:p.Thr1087Ser | |
| ENST00000431873.5:c.140C>G | ENSP00000414027.2:p.Thr47Ser | |
| ENST00000618119.4:c.2129C>G | ENSP00000482733.1:p.Thr710Ser | |
| NM_004304.4:c.3260C>G | NP_004295.2:p.Thr1087Ser | |
| NM_001353765.1:c.56C>G | NP_001340694.1:p.Thr19Ser | |
| XM_024452778.1:c.413C>G | XP_024308546.1:p.Thr138Ser | |
| XM_024452779.1:c.56C>G | XP_024308547.1:p.Thr19Ser | |
| NM_004304.5:c.3260C>G MANE Select | NP_004295.2:p.Thr1087Ser | |
| NM_001353765.2:c.56C>G | NP_001340694.1:p.Thr19Ser |