Revel Score:
ENST00000356433 (MANE Select)
0.203
ENST00000205143
0.203
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00315437 (SAS)
Genomes Max Group AF
0.00257694 (SAS)
Exomes Max Group AF
0.00312116 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39504095C>G , CM000681.2:g.39504095C>G | GRCh38 |
| NC_000019.9:g.39994735C>G , CM000681.1:g.39994735C>G | GRCh37 |
| NC_000019.8:g.44686575C>G | NCBI36 |
| NG_008256.1:g.10179C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356433.10:c.677C>G MANE Select | ENSP00000348810.4:p.Pro226Arg | |
| ENST00000205143.4:c.677C>G | ENSP00000205143.3:p.Pro226Arg | |
| ENST00000356433.9:c.677C>G | ENSP00000348810.4:p.Pro226Arg | |
| ENST00000596614.5:c.410-2944C>G | ENSP00000471688.1:n.410-2944C>G | |
| ENST00000600437.1:n.757C>G | ||
| NM_016941.3:c.677C>G | NP_058637.1:p.Pro226Arg | |
| NM_203486.2:c.677C>G | NP_982353.1:p.Pro226Arg | |
| NM_016941.4:c.677C>G | NP_058637.1:p.Pro226Arg | |
| NM_203486.3:c.677C>G MANE Select | NP_982353.1:p.Pro226Arg |