COSMIC:
COSM3752147 (not active)
COSM5826896 (not active)
Revel Score:
ENST00000543092
0.074
ENST00000260191 (MANE Select)
0.247
ENST00000537778
0.247
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43394719 (AFR)
Genomes Max Group AF
0.43087679 (AFR)
Exomes Max Group AF
0.43409814 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113932306A>C , CM000673.2:g.113932306A>C | GRCh38 |
| NC_000011.9:g.113803028A>C , CM000673.1:g.113803028A>C | GRCh37 |
| NC_000011.8:g.113308238A>C | NCBI36 |
| NG_011483.1:g.32440A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260191.8:c.386A>C MANE Select | ENSP00000260191.2:p.Tyr129Ser | |
| ENST00000260191.7:c.386A>C | ENSP00000260191.2:p.Tyr129Ser | |
| ENST00000260191.6:c.386A>C | ENSP00000260191.2:p.Tyr129Ser | |
| ENST00000537778.5:c.353A>C | ENSP00000443118.1:p.Tyr118Ser | |
| ENST00000543092.1:c.172A>C | ||
| NM_006028.4:c.386A>C | NP_006019.1:p.Tyr129Ser | |
| XM_011543063.1:c.353A>C | XP_011541365.1:p.Tyr118Ser | |
| XM_011543064.1:c.185A>C | XP_011541366.1:p.Tyr62Ser | |
| XM_011543065.1:c.179A>C | XP_011541367.1:p.Tyr60Ser | |
| XM_011543066.1:c.353A>C | XP_011541368.1:p.Tyr118Ser | |
| NM_001363563.1:c.353A>C | NP_001350492.1:p.Tyr118Ser | |
| XM_017018552.2:c.179A>C | XP_016874041.1:p.Tyr60Ser | |
| XM_024448767.1:c.92A>C | XP_024304535.1:p.Tyr31Ser | |
| XR_001748034.2:n.637A>C | ||
| NM_001363563.2:c.353A>C | NP_001350492.1:p.Tyr118Ser | |
| NM_006028.5:c.386A>C MANE Select | NP_006019.1:p.Tyr129Ser |