COSMIC:
COSM4002151 (not active)
Revel Score:
ENST00000215838 (MANE Select)
0.113
ENST00000405742
0.113
ENST00000407817
0.113
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76297023 (AFR)
Genomes Max Group AF
0.75210057 (AFR)
Exomes Max Group AF
0.77159007 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30615623G>C , CM000684.2:g.30615623G>C | GRCh38 |
| NC_000022.10:g.31011610G>C , CM000684.1:g.31011610G>C | GRCh37 |
| NC_000022.9:g.29341610G>C | NCBI36 |
| NG_007263.1:g.13450G>C , LRG_116:g.13450G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471659.2:n.2253G>C | ||
| ENST00000698263.1:c.776G>C | ENSP00000513635.1:p.Arg259Pro | |
| ENST00000698264.1:n.2253G>C | ||
| ENST00000698265.1:c.776G>C | ENSP00000513636.1:p.Arg259Pro | |
| ENST00000698266.1:c.776G>C | ENSP00000513637.1:p.Arg259Pro | |
| ENST00000698267.1:c.776G>C | ENSP00000513638.1:p.Arg259Pro | |
| ENST00000698268.1:c.776G>C | ENSP00000513639.1:p.Arg259Pro | |
| ENST00000698269.1:c.*342G>C | ENSP00000513640.1:n.*342G>C | |
| ENST00000698270.1:c.623G>C | ENSP00000513641.1:p.Arg208Pro | |
| ENST00000698271.1:c.806G>C | ENSP00000513642.1:p.Arg269Pro | |
| ENST00000698272.1:c.767G>C | ENSP00000513643.1:p.Arg256Pro | |
| ENST00000698273.1:c.767G>C | ENSP00000513644.1:p.Arg256Pro | |
| ENST00000215838.8:c.776G>C MANE Select | ENSP00000215838.3:p.Arg259Pro | |
| ENST00000215838.7:c.776G>C | ENSP00000215838.3:p.Arg259Pro | |
| ENST00000405742.7:c.764G>C | ENSP00000385914.3:p.Arg255Pro | |
| ENST00000407817.3:c.695G>C | ENSP00000384914.3:p.Arg232Pro | |
| ENST00000450638.5:c.701G>C | ENSP00000394184.2:p.Arg234Pro | |
| NM_000355.3:c.776G>C | NP_000346.2:p.Arg259Pro | |
| NM_001184726.1:c.695G>C | NP_001171655.1:p.Arg232Pro | |
| NM_000355.4:c.776G>C MANE Select | NP_000346.2:p.Arg259Pro | |
| NM_001184726.2:c.695G>C | NP_001171655.1:p.Arg232Pro |