Revel Score:
ENST00000309244 (MANE Select)
0.359
ENST00000354232
0.359
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51347036G>C , CM000681.2:g.51347036G>C | GRCh38 |
| NC_000019.9:g.51850290G>C , CM000681.1:g.51850290G>C | GRCh37 |
| NC_000019.8:g.56542102G>C | NCBI36 |
| NG_007115.1:g.24383C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309244.9:c.461C>G MANE Select | ENSP00000311930.3:p.Thr154Arg | |
| ENST00000309244.8:c.461C>G | ENSP00000311930.3:p.Thr154Arg | |
| ENST00000354232.8:c.734C>G | ENSP00000346173.3:p.Thr245Arg | |
| ENST00000594361.1:n.1495C>G | ||
| ENST00000596253.1:c.302C>G | ENSP00000469628.1:p.Thr101Arg | |
| NM_001014763.1:c.734C>G | NP_001014763.1:p.Thr245Arg | |
| NM_001985.2:c.461C>G | NP_001976.1:p.Thr154Arg | |
| XM_024451418.1:c.350C>G | XP_024307186.1:p.Thr117Arg | |
| NM_001985.3:c.461C>G MANE Select | NP_001976.1:p.Thr154Arg |