Revel Score:
ENST00000297268 (MANE Select)
0.965
ENST00000545487
0.965
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94409403G>C , CM000669.2:g.94409403G>C | GRCh38 |
| NC_000007.13:g.94038715G>C , CM000669.1:g.94038715G>C | GRCh37 |
| NC_000007.12:g.93876651G>C | NCBI36 |
| NG_007405.1:g.19843G>C , LRG_2:g.19843G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.874G>C MANE Select | ENSP00000297268.6:p.Gly292Arg | |
| ENST00000297268.10:c.874G>C | ENSP00000297268.6:p.Gly292Arg | |
| ENST00000620463.1:c.868G>C | ENSP00000477719.1:p.Gly290Arg | |
| NM_000089.3:c.874G>C , LRG_2t1:c.874G>C | NP_000080.2:p.Gly292Arg | |
| NM_000089.4:c.874G>C MANE Select | NP_000080.2:p.Gly292Arg |