Revel Score:
ENST00000374695 (MANE Select)
0.043
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000876 (SAS)
Exomes Max Group AF
0.00000925 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21842306G>C , CM000663.2:g.21842306G>C | GRCh38 |
| NC_000001.10:g.22168799G>C , CM000663.1:g.22168799G>C | GRCh37 |
| NC_000001.9:g.22041386G>C | NCBI36 |
| NG_016740.1:g.99952C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.8985C>G MANE Select | ENSP00000363827.3:p.Ser2995Arg | |
| ENST00000374695.7:c.8985C>G | ENSP00000363827.3:p.Ser2995Arg | |
| NM_001291860.1:c.8988C>G | NP_001278789.1:p.Ser2996Arg | |
| NM_005529.6:c.8985C>G | NP_005520.4:p.Ser2995Arg | |
| XM_006710594.2:c.9531C>G | XP_006710657.1:p.Ser3177Arg | |
| XM_006710595.2:c.9483C>G | XP_006710658.1:p.Ser3161Arg | |
| XM_006710596.2:c.9462C>G | XP_006710659.1:p.Ser3154Arg | |
| XM_006710597.2:c.8985C>G | XP_006710660.1:p.Ser2995Arg | |
| XM_011541317.1:c.9534C>G | XP_011539619.1:p.Ser3178Arg | |
| XM_011541318.1:c.9534C>G | XP_011539620.1:p.Ser3178Arg | |
| XM_011541319.1:c.9534C>G | XP_011539621.1:p.Ser3178Arg | |
| XM_011541320.1:c.9255C>G | XP_011539622.1:p.Ser3085Arg | |
| XM_011541321.1:c.9039C>G | XP_011539623.1:p.Ser3013Arg | |
| XM_011541318.2:c.9534C>G | XP_011539620.1:p.Ser3178Arg | |
| XM_017001120.1:c.9180C>G | XP_016856609.1:p.Ser3060Arg | |
| XM_017001121.1:c.9129C>G | XP_016856610.1:p.Ser3043Arg | |
| XM_017001122.1:c.9126C>G | XP_016856611.1:p.Ser3042Arg | |
| NM_005529.7:c.8985C>G MANE Select | NP_005520.4:p.Ser2995Arg | |
| NM_001291860.2:c.8988C>G | NP_001278789.1:p.Ser2996Arg |