Revel Score:
ENST00000323929 (MANE Select)
0.099
ENST00000407439
0.099
ENST00000323977
0.099
ENST00000393241
0.099
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94437206G>C , CM000673.2:g.94437206G>C | GRCh38 |
| NC_000011.9:g.94170372G>C , CM000673.1:g.94170372G>C | GRCh37 |
| NC_000011.8:g.93810020G>C | NCBI36 |
| NG_007261.1:g.61669C>G , LRG_85:g.61669C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323929.8:c.1897C>G MANE Select | ENSP00000325863.4:p.Arg633Gly | |
| ENST00000323929.7:c.1897C>G | ENSP00000325863.3:p.Arg633Gly | |
| ENST00000323977.7:c.1813C>G | ENSP00000326094.3:p.Arg605Gly | |
| ENST00000393241.8:c.1894C>G | ENSP00000376933.4:p.Arg632Gly | |
| ENST00000407439.7:c.1906C>G | ENSP00000385614.3:p.Arg636Gly | |
| NM_005590.3:c.1813C>G | NP_005581.2:p.Arg605Gly | |
| NM_005591.3:c.1897C>G , LRG_85t1:c.1897C>G | NP_005582.1:p.Arg633Gly | |
| XM_005274008.2:c.1429C>G | XP_005274065.1:p.Arg477Gly | |
| XM_006718842.2:c.1894C>G | XP_006718905.1:p.Arg632Gly | |
| XM_011542837.1:c.1897C>G | XP_011541139.1:p.Arg633Gly | |
| XR_947828.1:n.2193C>G | ||
| NM_001330347.1:c.1894C>G | NP_001317276.1:p.Arg632Gly | |
| XM_005274008.3:c.1429C>G | XP_005274065.1:p.Arg477Gly | |
| XM_006718842.3:c.1894C>G | XP_006718905.1:p.Arg632Gly | |
| XM_011542837.2:c.1897C>G | XP_011541139.1:p.Arg633Gly | |
| XM_017017772.1:c.1897C>G | XP_016873261.1:p.Arg633Gly | |
| XR_947828.2:n.2193C>G | ||
| NM_001330347.2:c.1894C>G | NP_001317276.1:p.Arg632Gly | |
| NM_005590.4:c.1813C>G | NP_005581.2:p.Arg605Gly | |
| NM_005591.4:c.1897C>G MANE Select | NP_005582.1:p.Arg633Gly |