Revel Score:
ENST00000299397
0.905
ENST00000356761
0.905
ENST00000342245 (MANE Select)
0.905
ENST00000527275
0.905
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6391732T>G , CM000673.2:g.6391732T>G | GRCh38 |
| NC_000011.9:g.6412962T>G , CM000673.1:g.6412962T>G | GRCh37 |
| NC_000011.8:g.6369538T>G | NCBI36 |
| NG_011780.1:g.6308T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.667T>G MANE Select | ENSP00000340409.4:p.Cys223Gly | |
| ENST00000342245.8:c.667T>G | ENSP00000340409.4:p.Cys223Gly | |
| ENST00000527275.5:c.664T>G | ENSP00000435350.1:p.Cys222Gly | |
| ENST00000530395.1:c.-95-58T>G | ENSP00000431479.1:n.-95-58T>G | |
| ENST00000531303.5:c.438+229T>G | ENSP00000432625.1:n.438+229T>G | |
| ENST00000533123.5:c.667T>G | ENSP00000435950.1:p.Cys223Gly | |
| ENST00000533196.1:n.375-274T>G | ||
| ENST00000534405.5:c.667T>G | ENSP00000434353.1:p.Cys223Gly | |
| NM_000543.4:c.667T>G | NP_000534.3:p.Cys223Gly | |
| NM_001007593.2:c.664T>G | NP_001007594.2:p.Cys222Gly | |
| XM_005253075.3:c.667T>G | XP_005253132.1:p.Cys223Gly | |
| XM_011520303.1:c.667T>G | XP_011518605.1:p.Cys223Gly | |
| XM_011520304.1:c.667T>G | XP_011518606.1:p.Cys223Gly | |
| XR_930886.1:n.965T>G | ||
| NM_001318087.1:c.667T>G | NP_001305016.1:p.Cys223Gly | |
| NM_001318088.1:c.-295T>G | NP_001305017.1:n.-295T>G | |
| NM_001365135.1:c.667T>G | NP_001352064.1:p.Cys223Gly | |
| NR_027400.2:n.852T>G | ||
| NR_134502.1:n.623+229T>G | ||
| XM_011520304.2:c.667T>G | XP_011518606.1:p.Cys223Gly | |
| XR_001747940.2:n.792T>G | ||
| XR_002957158.1:n.792T>G | ||
| NM_000543.5:c.667T>G MANE Select | NP_000534.3:p.Cys223Gly | |
| NM_001007593.3:c.664T>G | NP_001007594.2:p.Cys222Gly | |
| NM_001318087.2:c.667T>G | NP_001305016.1:p.Cys223Gly | |
| NM_001318088.2:c.-295T>G | NP_001305017.1:n.-295T>G | |
| NM_001365135.2:c.667T>G | NP_001352064.1:p.Cys223Gly | |
| NR_027400.3:n.792T>G | ||
| NR_134502.2:n.563+229T>G |