Revel Score:
ENST00000246635 (MANE Select)
0.169
ENST00000336861
0.169
ENST00000157775
0.169
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41502941G>C , CM000679.2:g.41502941G>C | GRCh38 |
| NC_000017.10:g.39659193G>C , CM000679.1:g.39659193G>C | GRCh37 |
| NC_000017.9:g.36912719G>C | NCBI36 |
| NG_008406.1:g.7673C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246635.8:c.893C>G MANE Select | ENSP00000246635.3:p.Thr298Ser | |
| ENST00000246635.7:c.893C>G | ENSP00000246635.3:p.Thr298Ser | |
| ENST00000336861.7:c.893C>G | ENSP00000336604.3:p.Thr298Ser | |
| ENST00000464634.2:c.*490C>G | ENSP00000466525.1:n.*490C>G | |
| ENST00000468313.5:n.729C>G | ||
| ENST00000587544.5:c.893C>G | ENSP00000468221.1:p.Thr298Ser | |
| NM_002274.3:c.893C>G | NP_002265.2:p.Ala298Gly | |
| NM_153490.2:c.893C>G | NP_705694.2:p.Ala298Gly | |
| NM_153490.3:c.893C>G MANE Select | NP_705694.3:p.Thr298Ser | |
| NM_002274.4:c.893C>G | NP_002265.3:p.Thr298Ser |