Revel Score:
ENST00000322344 (MANE Select)
0.126
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861679G>C , CM000681.2:g.49861679G>C | GRCh38 |
| NC_000019.9:g.50364936G>C , CM000681.1:g.50364936G>C | GRCh37 |
| NC_000019.8:g.55056748G>C | NCBI36 |
| NG_027717.1:g.10887C>G | |
| NG_050666.1:g.17836G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1315C>G MANE Select | ENSP00000323511.2:p.Arg439Gly | |
| ENST00000322344.7:c.1315C>G | ENSP00000323511.2:p.Arg439Gly | |
| ENST00000593946.5:c.*1242C>G | ENSP00000468896.1:n.*1242C>G | |
| ENST00000594661.5:n.1816C>G | ||
| ENST00000595081.5:n.218C>G | ||
| ENST00000596014.5:c.1315C>G | ENSP00000472300.1:p.Arg439Gly | |
| ENST00000597965.2:c.22C>G | ENSP00000471097.2:p.Arg8Gly | |
| ENST00000599454.5:n.235C>G | ||
| ENST00000600573.5:c.1222C>G | ENSP00000469826.1:p.Arg408Gly | |
| ENST00000600910.5:c.1205C>G | ENSP00000473137.1:p.Pro402Arg | |
| ENST00000601816.3:n.290C>G | ||
| ENST00000625216.2:c.396C>G | ENSP00000486898.1:n.396C>G | |
| ENST00000627232.2:c.1235C>G | ENSP00000486037.1:n.1235C>G | |
| ENST00000631020.2:c.1207C>G | ENSP00000486707.1:p.Arg403Gly | |
| NM_007254.3:c.1315C>G | NP_009185.2:p.Arg439Gly | |
| NM_007254.4:c.1315C>G MANE Select | NP_009185.2:p.Arg439Gly |