Revel Score:
ENST00000228347 (MANE Select)
0.985
ENST00000539066
0.985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106454625G>C , CM000674.2:g.106454625G>C | GRCh38 |
| NC_000012.11:g.106848403G>C , CM000674.1:g.106848403G>C | GRCh37 |
| NC_000012.10:g.105372533G>C | NCBI36 |
| NG_031837.1:g.101968G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228347.9:c.2207G>C MANE Select | ENSP00000228347.4:p.Gly736Ala | |
| ENST00000228347.8:c.2207G>C | ENSP00000228347.4:p.Gly736Ala | |
| ENST00000539066.5:c.2033G>C | ENSP00000445721.1:p.Gly678Ala | |
| NM_001160708.1:c.2033G>C | NP_001154180.1:p.Gly678Ala | |
| NM_018082.5:c.2207G>C | NP_060552.4:p.Gly736Ala | |
| XM_017019621.2:c.2207G>C | XP_016875110.1:p.Gly736Ala | |
| NM_018082.6:c.2207G>C MANE Select | NP_060552.4:p.Gly736Ala | |
| NM_001160708.2:c.2033G>C | NP_001154180.1:p.Gly678Ala |