Revel Score:
ENST00000392665
0.873
ENST00000392666 (MANE Select)
0.873
ENST00000440599
0.873
ENST00000324036
0.873
ENST00000392664
0.873
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002104 (SAS)
Exomes Max Group AF
0.00002194 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839644G>C , CM000673.2:g.128839644G>C | GRCh38 |
| NC_000011.9:g.128709539G>C , CM000673.1:g.128709539G>C | GRCh37 |
| NC_000011.8:g.128214749G>C | NCBI36 |
| NG_009379.1:g.32730C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.600C>G MANE Select | ENSP00000376434.1:p.Ser200Arg | |
| ENST00000324036.7:c.600C>G | ENSP00000316233.3:p.Ser200Arg | |
| ENST00000392664.2:c.657C>G | ENSP00000376432.2:p.Ser219Arg | |
| ENST00000392665.6:c.600C>G | ENSP00000376433.2:p.Ser200Arg | |
| ENST00000392666.5:c.600C>G | ENSP00000376434.1:p.Ser200Arg | |
| ENST00000440599.6:c.600C>G | ENSP00000406320.2:p.Ser200Arg | |
| NM_000220.4:c.657C>G | NP_000211.1:p.Ser219Arg | |
| NM_153764.2:c.600C>G | NP_722448.1:p.Ser200Arg | |
| NM_153765.2:c.651C>G | NP_722449.3:p.Ser217Arg | |
| NM_153766.2:c.600C>G | NP_722450.1:p.Ser200Arg | |
| NM_153767.3:c.600C>G | NP_722451.1:p.Ser200Arg | |
| NM_000220.6:c.657C>G | NP_000211.1:p.Ser219Arg | |
| NM_153764.3:c.600C>G | NP_722448.1:p.Ser200Arg | |
| NM_153765.3:c.651C>G | NP_722449.3:p.Ser217Arg | |
| NM_153766.3:c.600C>G MANE Select | NP_722450.1:p.Ser200Arg | |
| NM_153767.4:c.600C>G | NP_722451.1:p.Ser200Arg |