ClinVar RCV:
ClinVar Variation:
COSMIC:
COSM148259
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4712312 (NFE)
Genomes Max Group AF
0.44926986 (NFE)
Exomes Max Group AF
0.47234507 (NFE)
Revel Score:
ENST00000439167
0.028
ENST00000439016
0.028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39766006G>A , CM000679.2:g.39766006G>A | GRCh38 |
| NC_000017.10:g.37922259G>A , CM000679.1:g.37922259G>A | GRCh37 |
| NC_000017.9:g.35175785G>A | NCBI36 |
| NG_029104.2:g.103183C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346872.8:c.1314C>T MANE Select | ENSP00000344544.3:p.Ser438= | |
| ENST00000293068.9:c.*648C>T | ENSP00000462791.1:n.*648C>T | |
| ENST00000346243.7:c.1080C>T | ENSP00000341977.3:p.Ser360= | |
| ENST00000346872.7:c.1314C>T | ENSP00000344544.3:p.Ser438= | |
| ENST00000348427.7:c.*648C>T | ENSP00000463505.1:n.*648C>T | |
| ENST00000350532.7:c.1197C>T | ENSP00000344471.3:p.Ser399= | |
| ENST00000351680.7:c.1197C>T | ENSP00000345622.3:p.Ser399= | |
| ENST00000377944.7:c.885C>T | ENSP00000367179.3:p.Ser295= | |
| ENST00000377945.7:c.912C>T | ENSP00000367180.3:p.Ser304= | |
| ENST00000377952.6:c.651C>T | ENSP00000367188.2:p.Ser217= | |
| ENST00000377958.6:c.1053C>T | ENSP00000367194.2:p.Ser351= | |
| ENST00000394189.6:c.768C>T | ENSP00000377741.2:p.Ser256= | |
| ENST00000439016.2:c.1029C>T | ENSP00000403027.2:p.Ser343= | |
| ENST00000439167.6:c.1095C>T | ENSP00000403776.2:p.Ser365= | |
| ENST00000467757.5:c.1146C>T | ENSP00000420463.1:p.Ser382= | |
| ENST00000535189.5:c.1212C>T | ENSP00000438972.1:p.Ser404= | |
| ENST00000583368.1:c.573C>T | ENSP00000462452.1:p.Ser191= | |
| ENST00000623724.3:c.573C>T | ENSP00000485515.1:p.Ser191= | |
| NM_001257408.1:c.1212C>T | NP_001244337.1:p.Ser404= | |
| NM_001257409.1:c.1095C>T | NP_001244338.1:p.Ser365= | |
| NM_001257410.1:c.1053C>T | NP_001244339.1:p.Ser351= | |
| NM_001257411.1:c.885C>T | NP_001244340.1:p.Ser295= | |
| NM_001257412.1:c.768C>T | NP_001244341.1:p.Ser256= | |
| NM_001257413.1:c.651C>T | NP_001244342.1:p.Ser217= | |
| NM_001257414.1:c.912C>T | NP_001244343.1:p.Ser304= | |
| NM_001284514.1:c.573C>T | NP_001271443.1:p.Ser191= | |
| NM_001284515.1:c.573C>T | NP_001271444.1:p.Ser191= | |
| NM_001284516.1:c.573C>T | NP_001271445.1:p.Ser191= | |
| NM_012481.4:c.1314C>T | NP_036613.2:p.Ser438= | |
| NM_183228.2:c.1146C>T | NP_899051.1:p.Ser382= | |
| NM_183229.2:c.1197C>T | NP_899052.1:p.Ser399= | |
| NM_183230.2:c.1197C>T | NP_899053.1:p.Ser399= | |
| NM_183231.2:c.1029C>T | NP_899054.1:p.Ser343= | |
| NM_183232.2:c.1080C>T | NP_899055.1:p.Ser360= | |
| NM_012481.5:c.1314C>T MANE Select | NP_036613.2:p.Ser438= | |
| NM_001257408.2:c.1212C>T | NP_001244337.1:p.Ser404= | |
| NM_001257409.2:c.1095C>T | NP_001244338.1:p.Ser365= | |
| NM_001257410.2:c.1053C>T | NP_001244339.1:p.Ser351= | |
| NM_001257411.2:c.885C>T | NP_001244340.1:p.Ser295= | |
| NM_001257412.2:c.768C>T | NP_001244341.1:p.Ser256= | |
| NM_001257413.2:c.651C>T | NP_001244342.1:p.Ser217= | |
| NM_001257414.2:c.912C>T | NP_001244343.1:p.Ser304= | |
| NM_001284515.2:c.573C>T | NP_001271444.1:p.Ser191= | |
| NM_183228.3:c.1146C>T | NP_899051.1:p.Ser382= | |
| NM_183229.3:c.1197C>T | NP_899052.1:p.Ser399= | |
| NM_183230.3:c.1197C>T | NP_899053.1:p.Ser399= | |
| NM_183231.3:c.1029C>T | NP_899054.1:p.Ser343= | |
| NM_183232.3:c.1080C>T | NP_899055.1:p.Ser360= | |
| NM_001284514.2:c.573C>T | NP_001271443.1:p.Ser191= |