Revel Score:
ENST00000299084 (MANE Select)
0.385
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351302C>G , CM000677.2:g.38351302C>G | GRCh38 |
| NC_000015.9:g.38643503C>G , CM000677.1:g.38643503C>G | GRCh37 |
| NC_000015.8:g.36430795C>G | NCBI36 |
| NG_008980.1:g.103452C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.973C>G MANE Select | ENSP00000299084.4:p.Arg325Gly | |
| ENST00000299084.8:c.973C>G | ENSP00000299084.4:p.Arg325Gly | |
| NM_152594.2:c.973C>G | NP_689807.1:p.Arg325Gly | |
| XM_005254202.2:c.1009C>G | XP_005254259.1:p.Arg337Gly | |
| XM_005254203.3:c.751C>G | XP_005254260.1:p.Arg251Gly | |
| XM_011521288.1:c.910C>G | XP_011519590.1:p.Arg304Gly | |
| XM_011521289.1:c.910C>G | XP_011519591.1:p.Arg304Gly | |
| XM_011521290.1:c.910C>G | XP_011519592.1:p.Arg304Gly | |
| XM_005254202.3:c.1009C>G | XP_005254259.1:p.Arg337Gly | |
| XM_011521289.3:c.910C>G | XP_011519591.1:p.Arg304Gly | |
| NM_152594.3:c.973C>G MANE Select | NP_689807.1:p.Arg325Gly |