Revel Score:
ENST00000298139 (MANE Select)
0.066
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31147066T>G , CM000670.2:g.31147066T>G | GRCh38 |
| NC_000008.10:g.31004582T>G , CM000670.1:g.31004582T>G | GRCh37 |
| NC_000008.9:g.31124124T>G | NCBI36 |
| NG_008870.1:g.118805T>G , LRG_524:g.118805T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.3397T>G MANE Select | ENSP00000298139.5:p.Ser1133Ala | |
| ENST00000650667.1:c.*3011T>G | ENSP00000498593.1:n.*3011T>G | |
| ENST00000298139.5:c.3397T>G | ENSP00000298139.5:p.Ser1133Ala | |
| ENST00000521620.5:n.2030T>G | ||
| NM_000553.4:c.3397T>G , LRG_524t1:c.3397T>G | NP_000544.2:p.Ser1133Ala | |
| XM_011544639.1:c.3316T>G | XP_011542941.1:p.Ser1106Ala | |
| XM_011544640.1:c.1798T>G | XP_011542942.1:p.Ser600Ala | |
| XR_949470.1:n.3670T>G | ||
| XR_949471.1:n.3670T>G | ||
| XR_949472.1:n.3670T>G | ||
| XR_949643.1:n.614+1442A>C | ||
| NM_000553.5:c.3397T>G | NP_000544.2:p.Ser1133Ala | |
| XM_011544639.3:c.3316T>G | XP_011542941.1:p.Ser1106Ala | |
| XM_024447265.1:c.3187T>G | XP_024303033.1:p.Ser1063Ala | |
| XR_949470.3:n.3698T>G | ||
| XR_949471.3:n.3698T>G | ||
| XR_949472.3:n.3698T>G | ||
| NM_000553.6:c.3397T>G MANE Select | NP_000544.2:p.Ser1133Ala |