Linked Data
ClinVar Variation Id:
241104
ClinVar RCV Id:
RCV000234306
dbSNP Id:
rs878855021
gnomAD v4:
16-78425043-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.78425043C>G , CM000678.2:g.78425043C>G | GRCh38 |
| NC_000016.9:g.78458940C>G , CM000678.1:g.78458940C>G | GRCh37 |
| NC_000016.8:g.77016441C>G | NCBI36 |
| NG_011698.1:g.330390C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627394.3:c.779C>G | ENSP00000485925.2:p.Ser260Ter | |
| ENST00000683929.1:c.779C>G | ENSP00000507689.1:p.Ser260Ter | |
| ENST00000684632.1:n.1158C>G | ||
| ENST00000566780.6:c.779C>G MANE Select | ENSP00000457230.1:p.Ser260Ter | |
| ENST00000402655.6:c.409+309889C>G | ENSP00000384238.2:n.409+309889C>G | |
| ENST00000406884.6:c.516+260754C>G | ENSP00000384495.2:n.516+260754C>G | |
| ENST00000408984.7:c.779C>G | ENSP00000386161.3:p.Ser260Ter | |
| ENST00000539474.6:c.409+309889C>G | ENSP00000445210.2:n.409+309889C>G | |
| ENST00000562639.5:n.467C>G | ||
| ENST00000566780.5:c.779C>G | ENSP00000457230.1:p.Ser260Ter | |
| ENST00000569332.5:c.*576C>G | ENSP00000454788.1:n.*576C>G | |
| ENST00000620008.1:c.173C>G | ENSP00000482648.1:p.Ser58Ter | |
| NM_001291997.1:c.440C>G | NP_001278926.1:p.Ser147Ter | |
| NM_016373.3:c.779C>G | NP_057457.1:p.Ser260Ter | |
| XM_006721195.2:c.779C>G | XP_006721258.1:p.Ser260Ter | |
| XM_011523100.1:c.779C>G | XP_011521402.1:p.Ser260Ter | |
| XM_011523101.1:c.779C>G | XP_011521403.1:p.Ser260Ter | |
| XM_011523102.1:c.779C>G | XP_011521404.1:p.Ser260Ter | |
| XM_011523103.1:c.779C>G | XP_011521405.1:p.Ser260Ter | |
| XM_011523104.1:c.779C>G | XP_011521406.1:p.Ser260Ter | |
| XR_933765.1:n.3806+5383G>C | ||
| XM_011523101.3:c.779C>G | XP_011521403.1:p.Ser260Ter | |
| XM_011523103.3:c.779C>G | XP_011521405.1:p.Ser260Ter | |
| XM_011523104.3:c.779C>G | XP_011521406.1:p.Ser260Ter | |
| NM_016373.4:c.779C>G MANE Select | NP_057457.1:p.Ser260Ter | |
| NM_001291997.2:c.440C>G | NP_001278926.1:p.Ser147Ter |