Revel Score:
ENST00000300026 (MANE Select)
0.487
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64162961A>C , CM000677.2:g.64162961A>C | GRCh38 |
| NC_000015.9:g.64455160A>C , CM000677.1:g.64455160A>C | GRCh37 |
| NC_000015.8:g.62242213A>C | NCBI36 |
| NG_012979.1:g.5195T>G , LRG_10:g.5195T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300026.4:c.26T>G MANE Select | ENSP00000300026.4:p.Met9Arg | |
| ENST00000561048.2:n.59T>G | ||
| ENST00000680158.1:c.26T>G | ENSP00000504873.1:p.Met9Arg | |
| ENST00000681397.1:c.26T>G | ENSP00000506584.1:p.Met9Arg | |
| ENST00000681658.1:c.26T>G | ENSP00000505431.1:p.Met9Arg | |
| ENST00000300026.3:c.26T>G | ENSP00000300026.3:p.Met9Arg | |
| ENST00000558492.1:n.46T>G | ||
| ENST00000561048.1:n.61T>G | ||
| NM_000942.4:c.26T>G , LRG_10t1:c.26T>G | NP_000933.1:p.Met9Arg | |
| NM_000942.5:c.26T>G MANE Select | NP_000933.1:p.Met9Arg |