Revel Score:
ENST00000299766 (MANE Select)
0.068
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60372240T>C , CM000680.2:g.60372240T>C | GRCh38 |
| NC_000018.9:g.58039473T>C , CM000680.1:g.58039473T>C | GRCh37 |
| NC_000018.8:g.56190453T>C | NCBI36 |
| NG_016441.1:g.5529A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.110A>G MANE Select | ENSP00000299766.3:p.Asp37Gly | |
| ENST00000299766.4:c.110A>G | ENSP00000299766.3:p.Asp37Gly | |
| NM_005912.2:c.110A>G | NP_005903.2:p.Asp37Gly | |
| NM_005912.3:c.110A>G MANE Select | NP_005903.2:p.Asp37Gly |