Linked Data
ClinVar Variation Id:
410086
dbSNP Id:
rs199511589
ExAC:
16:78420802 C / A
gnomAD v2:
16-78420802-C-A
gnomAD v3:
16-78386905-C-A
gnomAD v4:
16-78386905-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.78386905C>A , CM000678.2:g.78386905C>A | GRCh38 |
| NC_000016.9:g.78420802C>A , CM000678.1:g.78420802C>A | GRCh37 |
| NC_000016.8:g.76978303C>A | NCBI36 |
| NG_011698.1:g.292252C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627394.3:c.562C>A | ENSP00000485925.2:p.Arg188Ser | |
| ENST00000683929.1:c.562C>A | ENSP00000507689.1:p.Arg188Ser | |
| ENST00000684070.1:n.826C>A | ||
| ENST00000684632.1:n.941C>A | ||
| ENST00000566780.6:c.562C>A MANE Select | ENSP00000457230.1:p.Arg188Ser | |
| ENST00000402655.6:c.409+271751C>A | ENSP00000384238.2:n.409+271751C>A | |
| ENST00000406884.6:c.516+222616C>A | ENSP00000384495.2:n.516+222616C>A | |
| ENST00000408984.7:c.562C>A | ENSP00000386161.3:p.Arg188Ser | |
| ENST00000539474.6:c.409+271751C>A | ENSP00000445210.2:n.409+271751C>A | |
| ENST00000562639.5:n.250C>A | ||
| ENST00000566662.5:c.*180C>A | ENSP00000454331.1:n.*180C>A | |
| ENST00000566780.5:c.562C>A | ENSP00000457230.1:p.Arg188Ser | |
| ENST00000569332.5:c.*359C>A | ENSP00000454788.1:n.*359C>A | |
| NM_001291997.1:c.223C>A | NP_001278926.1:p.Arg75Ser | |
| NM_016373.3:c.562C>A | NP_057457.1:p.Arg188Ser | |
| XM_006721195.2:c.562C>A | XP_006721258.1:p.Arg188Ser | |
| XM_011523100.1:c.562C>A | XP_011521402.1:p.Arg188Ser | |
| XM_011523101.1:c.562C>A | XP_011521403.1:p.Arg188Ser | |
| XM_011523102.1:c.562C>A | XP_011521404.1:p.Arg188Ser | |
| XM_011523103.1:c.562C>A | XP_011521405.1:p.Arg188Ser | |
| XM_011523104.1:c.562C>A | XP_011521406.1:p.Arg188Ser | |
| XM_011523101.3:c.562C>A | XP_011521403.1:p.Arg188Ser | |
| XM_011523103.3:c.562C>A | XP_011521405.1:p.Arg188Ser | |
| XM_011523104.3:c.562C>A | XP_011521406.1:p.Arg188Ser | |
| NM_016373.4:c.562C>A MANE Select | NP_057457.1:p.Arg188Ser | |
| NM_001291997.2:c.223C>A | NP_001278926.1:p.Arg75Ser |