Revel Score:
ENST00000317361
0.014
ENST00000399774
0.014
ENST00000342111
0.014
ENST00000551952
0.014
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09348066 (EAS)
Genomes Max Group AF
0.07938119 (EAS)
Exomes Max Group AF
0.09460411 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17743998T>C , CM000684.2:g.17743998T>C | GRCh38 |
| NC_000022.10:g.18226764T>C , CM000684.1:g.18226764T>C | GRCh37 |
| NC_000022.9:g.16606764T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399767.6:c.-261A>G | ENSP00000382669.1:n.-261A>G | |
| ENST00000622694.5:c.28A>G MANE Select | ENSP00000480414.1:p.Ser10Gly | |
| ENST00000317361.11:c.166A>G | ENSP00000318822.7:p.Ser56Gly | |
| ENST00000342111.9:c.28A>G | ENSP00000344594.5:p.Ser10Gly | |
| ENST00000399765.5:c.-65-4510A>G | ENSP00000382667.1:n.-65-4510A>G | |
| ENST00000399767.5:c.-261A>G | ENSP00000382669.1:n.-261A>G | |
| ENST00000399774.7:c.28A>G | ENSP00000382674.3:p.Ser10Gly | |
| ENST00000473439.5:n.131A>G | ||
| ENST00000550946.5:n.118A>G | ||
| ENST00000551952.5:c.28A>G | ENSP00000449236.1:p.Ser10Gly | |
| ENST00000552886.1:n.94A>G | ||
| ENST00000611040.1:c.-65-4510A>G | ENSP00000483709.1:n.-65-4510A>G | |
| ENST00000614949.4:c.-65-4510A>G | ENSP00000477773.1:n.-65-4510A>G | |
| ENST00000615414.4:c.-65-4510A>G | ENSP00000483534.1:n.-65-4510A>G | |
| ENST00000617586.1:c.28A>G | ENSP00000481991.1:p.Ser10Gly | |
| ENST00000622694.4:c.28A>G | ENSP00000480414.1:p.Ser10Gly | |
| NM_001196.3:c.28A>G | NP_001187.1:p.Ser10Gly | |
| NM_001244567.1:c.28A>G | NP_001231496.1:p.Ser10Gly | |
| NM_001244569.1:c.-65-4510A>G | NP_001231498.1:n.-65-4510A>G | |
| NM_001244570.1:c.-65-4510A>G | NP_001231499.1:n.-65-4510A>G | |
| NM_001244572.1:c.-65-4510A>G | NP_001231501.1:n.-65-4510A>G | |
| NM_197966.2:c.166A>G | NP_932070.1:p.Ser56Gly | |
| NM_197967.2:c.-261A>G | NP_932071.1:n.-261A>G | |
| NM_001196.4:c.28A>G MANE Select | NP_001187.1:p.Ser10Gly | |
| NM_197966.3:c.166A>G | NP_932070.1:p.Ser56Gly |