Revel Score:
ENST00000374695 (MANE Select)
0.071
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21842308T>A , CM000663.2:g.21842308T>A | GRCh38 |
| NC_000001.10:g.22168801T>A , CM000663.1:g.22168801T>A | GRCh37 |
| NC_000001.9:g.22041388T>A | NCBI36 |
| NG_016740.1:g.99950A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.8983A>T MANE Select | ENSP00000363827.3:p.Ser2995Cys | |
| ENST00000374695.7:c.8983A>T | ENSP00000363827.3:p.Ser2995Cys | |
| NM_001291860.1:c.8986A>T | NP_001278789.1:p.Ser2996Cys | |
| NM_005529.6:c.8983A>T | NP_005520.4:p.Ser2995Cys | |
| XM_006710594.2:c.9529A>T | XP_006710657.1:p.Ser3177Cys | |
| XM_006710595.2:c.9481A>T | XP_006710658.1:p.Ser3161Cys | |
| XM_006710596.2:c.9460A>T | XP_006710659.1:p.Ser3154Cys | |
| XM_006710597.2:c.8983A>T | XP_006710660.1:p.Ser2995Cys | |
| XM_011541317.1:c.9532A>T | XP_011539619.1:p.Ser3178Cys | |
| XM_011541318.1:c.9532A>T | XP_011539620.1:p.Ser3178Cys | |
| XM_011541319.1:c.9532A>T | XP_011539621.1:p.Ser3178Cys | |
| XM_011541320.1:c.9253A>T | XP_011539622.1:p.Ser3085Cys | |
| XM_011541321.1:c.9037A>T | XP_011539623.1:p.Ser3013Cys | |
| XM_011541318.2:c.9532A>T | XP_011539620.1:p.Ser3178Cys | |
| XM_017001120.1:c.9178A>T | XP_016856609.1:p.Ser3060Cys | |
| XM_017001121.1:c.9127A>T | XP_016856610.1:p.Ser3043Cys | |
| XM_017001122.1:c.9124A>T | XP_016856611.1:p.Ser3042Cys | |
| NM_005529.7:c.8983A>T MANE Select | NP_005520.4:p.Ser2995Cys | |
| NM_001291860.2:c.8986A>T | NP_001278789.1:p.Ser2996Cys |