Revel Score:
ENST00000319474
0.162
ENST00000549778
0.162
ENST00000377443 (MANE Select)
0.162
ENST00000377436
0.162
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8949347C>G , CM000663.2:g.8949347C>G | GRCh38 |
| NC_000001.10:g.9009406C>G , CM000663.1:g.9009406C>G | GRCh37 |
| NC_000001.9:g.8931993C>G | NCBI36 |
| NG_033975.1:g.8514C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377443.7:c.164C>G MANE Select | ENSP00000366662.2:p.Thr55Arg | |
| ENST00000377436.6:c.164C>G | ENSP00000366654.3:p.Thr55Arg | |
| ENST00000377442.3:c.79+3382C>G | ENSP00000366661.2:n.79+3382C>G | |
| ENST00000377443.6:c.164C>G | ENSP00000366662.2:p.Thr55Arg | |
| ENST00000476083.1:n.98+3382C>G | ||
| ENST00000480186.7:c.164C>G | ENSP00000435280.1:p.Thr55Arg | |
| ENST00000549778.5:c.164C>G | ENSP00000447108.1:p.Thr55Arg | |
| NM_001215.3:c.164C>G | NP_001206.2:p.Thr55Arg | |
| NM_001270500.1:c.164C>G | NP_001257429.1:p.Thr55Arg | |
| NM_001270501.1:c.79+3382C>G | NP_001257430.1:n.79+3382C>G | |
| NM_001270502.1:c.24+3382C>G | NP_001257431.1:n.24+3382C>G | |
| XM_011542083.1:c.176C>G | XP_011540385.1:p.Thr59Arg | |
| XM_011542084.1:c.176C>G | XP_011540386.1:p.Thr59Arg | |
| XM_011542083.3:c.176C>G | XP_011540385.1:p.Thr59Arg | |
| XM_011542084.3:c.176C>G | XP_011540386.1:p.Thr59Arg | |
| NM_001215.4:c.164C>G MANE Select | NP_001206.2:p.Thr55Arg | |
| NM_001270500.2:c.164C>G | NP_001257429.1:p.Thr55Arg | |
| NM_001270501.2:c.79+3382C>G | NP_001257430.1:n.79+3382C>G | |
| NM_001270502.2:c.24+3382C>G | NP_001257431.1:n.24+3382C>G |