Revel Score:
ENST00000340855 (MANE Select)
0.951
ENST00000537071
0.951
ENST00000541269
0.951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149482933C>G , CM000685.2:g.149482933C>G | GRCh38 |
| NC_000023.10:g.148564464C>G , CM000685.1:g.148564464C>G | GRCh37 |
| NC_000023.9:g.148372369C>G | NCBI36 |
| NG_011900.3:g.27402G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1466G>C MANE Select | ENSP00000339801.6:p.Gly489Ala | |
| ENST00000651111.1:c.833G>C | ENSP00000498395.1:p.Gly278Ala | |
| ENST00000340855.10:c.1466G>C | ENSP00000339801.6:p.Gly489Ala | |
| ENST00000422081.6:c.833G>C | ENSP00000477056.1:p.Gly278Ala | |
| NM_000202.6:c.1466G>C | NP_000193.1:p.Gly489Ala | |
| NM_001166550.2:c.1196G>C | NP_001160022.1:p.Gly399Ala | |
| NM_000202.7:c.1466G>C | NP_000193.1:p.Gly489Ala | |
| NM_001166550.3:c.1196G>C | NP_001160022.1:p.Gly399Ala | |
| NM_000202.8:c.1466G>C MANE Select | NP_000193.1:p.Gly489Ala | |
| NM_001166550.4:c.1196G>C | NP_001160022.1:p.Gly399Ala |