Revel Score:
ENST00000225927 (MANE Select)
0.938
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42538691C>G , CM000679.2:g.42538691C>G | GRCh38 |
| NC_000017.10:g.40690709C>G , CM000679.1:g.40690709C>G | GRCh37 |
| NC_000017.9:g.37944235C>G | NCBI36 |
| NG_011552.1:g.7759C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.700C>G MANE Select | ENSP00000225927.1:p.Arg234Gly | |
| ENST00000225927.6:c.700C>G | ENSP00000225927.1:p.Arg234Gly | |
| ENST00000586516.5:c.302C>G | ||
| ENST00000591587.1:c.295C>G | ENSP00000467836.1:p.Arg99Gly | |
| NM_000263.3:c.700C>G | NP_000254.2:p.Arg234Gly | |
| XM_006721920.2:c.-43C>G | XP_006721983.1:n.-43C>G | |
| XM_011524840.1:c.-43C>G | XP_011523142.1:n.-43C>G | |
| XM_017024687.1:c.-43C>G | XP_016880176.1:n.-43C>G | |
| XM_024450771.1:c.757C>G | XP_024306539.1:p.Arg253Gly | |
| XM_024450772.1:c.-43C>G | XP_024306540.1:n.-43C>G | |
| NM_000263.4:c.700C>G MANE Select | NP_000254.2:p.Arg234Gly |