Revel Score:
ENST00000362061 (MANE Select)
0.947
ENST00000367338
0.947
gnomAD v2:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201060816G>C , CM000663.2:g.201060816G>C | GRCh38 |
| NC_000001.10:g.201029944G>C , CM000663.1:g.201029944G>C | GRCh37 |
| NC_000001.9:g.199296567G>C | NCBI36 |
| NG_009816.1:g.56751C>G | |
| NG_009816.2:g.56751C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.3256C>G MANE Select | ENSP00000355192.3:p.Arg1086Gly | |
| ENST00000679417.1:c.*2419C>G | ENSP00000506706.1:n.*2419C>G | |
| ENST00000680051.1:n.382C>G | ||
| ENST00000680059.1:c.*774C>G | ENSP00000504944.1:n.*774C>G | |
| ENST00000681078.1:c.3256C>G | ENSP00000506645.1:p.Arg1086Gly | |
| ENST00000681190.1:c.3256C>G | ENSP00000506428.1:p.Arg1086Gly | |
| ENST00000681874.1:c.3196C>G | ENSP00000505162.1:p.Arg1066Gly | |
| ENST00000362061.3:c.3256C>G | ENSP00000355192.3:p.Arg1086Gly | |
| ENST00000367338.7:c.3256C>G | ENSP00000356307.3:p.Arg1086Gly | |
| NM_000069.2:c.3256C>G | NP_000060.2:p.Arg1086Gly | |
| XM_005245478.2:c.3256C>G | XP_005245535.1:p.Arg1086Gly | |
| XM_005245478.3:c.3256C>G | XP_005245535.1:p.Arg1086Gly | |
| NM_000069.3:c.3256C>G MANE Select | NP_000060.2:p.Arg1086Gly |