Revel Score:
ENST00000368455 (MANE Select)
0.312
ENST00000452194
0.312
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.122413577A>G , CM000668.2:g.122413577A>G | GRCh38 |
| NC_000006.11:g.122734722A>G , CM000668.1:g.122734722A>G | GRCh37 |
| NC_000006.10:g.122776421A>G | NCBI36 |
| NG_029607.1:g.19027A>G | |
| NG_029607.2:g.19027A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368455.9:c.383A>G MANE Select | ENSP00000357440.4:p.Lys128Arg | |
| ENST00000368455.8:c.383A>G | ENSP00000357440.4:p.Lys128Arg | |
| ENST00000452194.5:c.383A>G | ENSP00000400380.1:p.Lys128Arg | |
| NM_001135564.1:c.383A>G | NP_001129036.1:p.Lys128Arg | |
| NM_001243094.1:c.383A>G | NP_001230023.1:p.Lys128Arg | |
| NM_004506.3:c.383A>G | NP_004497.1:p.Lys128Arg | |
| NM_001243094.2:c.383A>G | NP_001230023.1:p.Lys128Arg | |
| NM_004506.4:c.383A>G MANE Select | NP_004497.1:p.Lys128Arg |