Revel Score:
ENST00000341267 (MANE Select)
0.409
ENST00000331224
0.409
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100734308T>G , CM000676.2:g.100734308T>G | GRCh38 |
| NC_000014.8:g.101200645T>G , CM000676.1:g.101200645T>G | GRCh37 |
| NC_000014.7:g.100270398T>G | NCBI36 |
| NG_016863.2:g.12444T>G | |
| NG_016863.3:g.12444T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341267.9:c.564T>G MANE Select | ENSP00000340292.4:p.Ile188Met | |
| ENST00000331224.10:c.564T>G | ENSP00000331081.6:p.Ile188Met | |
| ENST00000341267.8:c.564T>G | ENSP00000340292.4:p.Ile188Met | |
| NM_003836.5:c.564T>G | NP_003827.3:p.Ile188Met | |
| NM_001317172.1:c.564T>G | NP_001304101.1:p.Ile188Met | |
| NM_003836.6:c.564T>G | NP_003827.3:p.Ile188Met | |
| NM_001317172.2:c.564T>G | NP_001304101.2:p.Ile188Met | |
| NM_003836.7:c.564T>G MANE Select | NP_003827.4:p.Ile188Met |