Revel Score:
ENST00000529101
0.036
ENST00000530256
0.036
ENST00000264029 (MANE Select)
0.036
ENST00000450700
0.036
ENST00000525958
0.036
ENST00000397925
0.036
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118658994G>C , CM000673.2:g.118658994G>C | GRCh38 |
| NC_000011.9:g.118529703G>C , CM000673.1:g.118529703G>C | GRCh37 |
| NC_000011.8:g.118034913G>C | NCBI36 |
| NG_023321.1:g.25679C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264029.9:c.1456C>G MANE Select | ENSP00000264029.5:p.Arg486Gly | |
| ENST00000264029.8:c.1456C>G | ENSP00000264029.5:p.Arg486Gly | |
| ENST00000397925.2:c.1363C>G | ENSP00000381020.2:p.Arg455Gly | |
| ENST00000613915.4:c.*1233C>G | ENSP00000477923.1:n.*1233C>G | |
| NM_001301065.1:c.1363C>G | NP_001287994.1:p.Arg455Gly | |
| NM_007180.2:c.1456C>G | NP_009111.2:p.Arg486Gly | |
| XM_011542564.1:c.1033C>G | XP_011540866.1:p.Arg345Gly | |
| NM_001301065.2:c.1363C>G | NP_001287994.1:p.Arg455Gly | |
| NM_007180.3:c.1456C>G MANE Select | NP_009111.2:p.Arg486Gly |