Revel Score:
ENST00000357749 (MANE Select)
0.831
ENST00000358786
0.831
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.86047532T>C , CM000685.2:g.86047532T>C | GRCh38 |
| NC_000023.10:g.85302536T>C , CM000685.1:g.85302536T>C | GRCh37 |
| NC_000023.9:g.85189192T>C | NCBI36 |
| NG_009874.2:g.5031A>G , LRG_699:g.5031A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357749.7:c.1A>G MANE Select | ENSP00000350386.2:p.Met1Val | |
| ENST00000357749.6:c.1A>G | ENSP00000350386.2:p.Met1Val | |
| ENST00000483950.1:n.30A>G | ||
| ENST00000615443.1:c.1A>G | ENSP00000484306.1:p.Met1Val | |
| NM_000390.2:c.1A>G , LRG_699t1:c.1A>G | NP_000381.1:p.Met1Val | |
| NM_001145414.2:c.1A>G , LRG_699t2:c.1A>G | NP_001138886.1:p.Met1Val | |
| NM_000390.3:c.1A>G | NP_000381.1:p.Met1Val | |
| NM_001145414.3:c.1A>G | NP_001138886.1:p.Met1Val | |
| XM_017029242.2:c.1A>G | XP_016884731.1:p.Met1Val | |
| XM_017029246.1:c.-440A>G | XP_016884735.1:n.-440A>G | |
| NM_000390.4:c.1A>G MANE Select | NP_000381.1:p.Met1Val | |
| NM_001145414.4:c.1A>G | NP_001138886.1:p.Met1Val |