Revel Score:
ENST00000249389 (MANE Select)
0.482
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128775556C>G , CM000669.2:g.128775556C>G | GRCh38 |
| NC_000007.13:g.128415610C>G , CM000669.1:g.128415610C>G | GRCh37 |
| NC_000007.12:g.128202846C>G | NCBI36 |
| NG_009094.1:g.5235G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249389.3:c.226G>C MANE Select | ENSP00000249389.3:p.Gly76Arg | |
| ENST00000249389.2:c.235G>C | ENSP00000249389.2:p.Gly79Arg | |
| NM_001708.2:c.235G>C | NP_001699.1:p.Gly79Arg | |
| NM_001385125.1:c.226G>C MANE Select | NP_001372054.1:p.Gly76Arg |