Revel Score:
ENST00000376251
0.991
ENST00000323022 (MANE Select)
0.991
ENST00000376265
0.991
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49228079C>G , CM000685.2:g.49228079C>G | GRCh38 |
| NC_000023.10:g.49084541C>G , CM000685.1:g.49084541C>G | GRCh37 |
| NC_000023.9:g.48971485C>G | NCBI36 |
| NG_009095.2:g.10288G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.1075G>C MANE Select | ENSP00000321618.6:p.Gly359Arg | |
| ENST00000323022.9:c.1075G>C | ENSP00000321618.5:p.Gly359Arg | |
| ENST00000376251.5:c.880G>C | ENSP00000365427.1:p.Gly294Arg | |
| ENST00000376265.2:c.1075G>C | ENSP00000365441.2:p.Gly359Arg | |
| NM_001256789.2:c.1075G>C | NP_001243718.1:p.Gly359Arg | |
| NM_001256790.2:c.880G>C | NP_001243719.1:p.Gly294Arg | |
| NM_005183.3:c.1075G>C | NP_005174.2:p.Gly359Arg | |
| XM_011543983.1:c.880G>C | XP_011542285.1:p.Gly294Arg | |
| XM_011543983.2:c.880G>C | XP_011542285.1:p.Gly294Arg | |
| NM_001256789.3:c.1075G>C MANE Select | NP_001243718.1:p.Gly359Arg | |
| NM_001256790.3:c.880G>C | NP_001243719.1:p.Gly294Arg | |
| NM_005183.4:c.1075G>C | NP_005174.2:p.Gly359Arg |