Revel Score:
ENST00000358432 (MANE Select)
0.479
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16125272G>C , CM000663.2:g.16125272G>C | GRCh38 |
| NC_000001.10:g.16451767G>C , CM000663.1:g.16451767G>C | GRCh37 |
| NC_000001.9:g.16324354G>C | NCBI36 |
| NG_021396.1:g.35816C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.2874C>G MANE Select | ENSP00000351209.5:p.Ile958Met | |
| ENST00000358432.7:c.2874C>G | ENSP00000351209.5:p.Ile958Met | |
| NM_004431.3:c.2874C>G | NP_004422.2:p.Ile958Met | |
| NM_001329090.1:c.2712C>G | NP_001316019.1:p.Ile904Met | |
| NM_004431.4:c.2874C>G | NP_004422.2:p.Ile958Met | |
| NM_004431.5:c.2874C>G MANE Select | NP_004422.2:p.Ile958Met | |
| NM_001329090.2:c.2712C>G | NP_001316019.1:p.Ile904Met |