Linked Data
ClinVar Variation Id:
1362190
dbSNP Id:
rs201454950
ExAC:
11:35282479 A / T
gnomAD v2:
11-35282479-A-T
gnomAD v3:
11-35260932-A-T
gnomAD v4:
11-35260932-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35260932A>T , CM000673.2:g.35260932A>T | GRCh38 |
| NC_000011.9:g.35282479A>T , CM000673.1:g.35282479A>T | GRCh37 |
| NC_000011.8:g.35239055A>T | NCBI36 |
| NG_008727.1:g.163627T>A | |
| NG_008727.2:g.163627T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278379.9:c.1687T>A MANE Select | ENSP00000278379.3:p.Cys563Ser | |
| ENST00000395750.6:c.1675T>A | ENSP00000379099.2:p.Cys559Ser | |
| ENST00000395753.6:c.1660T>A | ENSP00000379102.1:p.Cys554Ser | |
| ENST00000479543.2:n.1239T>A | ||
| ENST00000642171.1:c.*69T>A | ENSP00000495538.1:n.*69T>A | |
| ENST00000642448.1:n.1779T>A | ||
| ENST00000642769.1:c.953T>A | ||
| ENST00000643000.1:c.1660T>A | ENSP00000495164.1:p.Cys554Ser | |
| ENST00000643134.1:c.1674T>A | ENSP00000495188.1:p.Thr558= | |
| ENST00000643522.1:c.1453T>A | ENSP00000496375.1:p.Cys485Ser | |
| ENST00000644050.1:c.1660T>A | ENSP00000496123.1:p.Cys554Ser | |
| ENST00000644299.1:c.1660T>A | ENSP00000494669.1:p.Cys554Ser | |
| ENST00000644459.1:c.*179T>A | ENSP00000495861.1:n.*179T>A | |
| ENST00000644779.1:c.1798T>A | ENSP00000494258.1:p.Cys600Ser | |
| ENST00000644868.1:c.1749T>A | ENSP00000496760.1:n.1749T>A | |
| ENST00000645194.1:c.1660T>A | ENSP00000496093.1:p.Cys554Ser | |
| ENST00000645303.1:c.1702T>A | ENSP00000496667.1:p.Cys568Ser | |
| ENST00000645542.1:n.393T>A | ||
| ENST00000645634.1:c.1660T>A | ENSP00000493945.1:p.Cys554Ser | |
| ENST00000646080.1:c.1678T>A | ENSP00000494113.1:p.Cys560Ser | |
| ENST00000647076.1:c.428T>A | ||
| ENST00000647104.1:c.1660T>A | ENSP00000494025.1:p.Cys554Ser | |
| ENST00000278379.7:c.1687T>A | ENSP00000278379.3:p.Cys563Ser | |
| ENST00000395750.5:c.1660T>A | ENSP00000379099.1:p.Cys554Ser | |
| ENST00000395753.5:c.1660T>A | ENSP00000379102.1:p.Cys554Ser | |
| ENST00000464522.2:c.219+4595T>A | ENSP00000435406.1:n.219+4595T>A | |
| ENST00000479543.1:n.503T>A | ||
| NM_001195728.2:c.1660T>A | NP_001182657.1:p.Cys554Ser | |
| NM_001252652.1:c.1660T>A | NP_001239581.1:p.Cys554Ser | |
| NM_004171.3:c.1687T>A | NP_004162.2:p.Cys563Ser | |
| XM_005253067.1:c.1678T>A | XP_005253124.1:p.Cys560Ser | |
| XM_011520284.1:c.1735T>A | XP_011518586.1:p.Cys579Ser | |
| XM_011520285.1:c.1675T>A | XP_011518587.1:p.Cys559Ser | |
| XM_011520286.1:c.1600T>A | XP_011518588.1:p.Cys534Ser | |
| XM_011520287.1:c.1501T>A | XP_011518589.1:p.Cys501Ser | |
| XM_011520285.2:c.1675T>A | XP_011518587.1:p.Cys559Ser | |
| XM_017018136.1:c.1702T>A | XP_016873625.1:p.Cys568Ser | |
| XM_017018137.1:c.1660T>A | XP_016873626.1:p.Cys554Ser | |
| XM_017018138.1:c.1660T>A | XP_016873627.1:p.Cys554Ser | |
| XM_017018139.1:c.1453T>A | XP_016873628.1:p.Cys485Ser | |
| NM_004171.4:c.1687T>A MANE Select | NP_004162.2:p.Cys563Ser | |
| NM_001195728.3:c.1660T>A | NP_001182657.1:p.Cys554Ser | |
| NM_001252652.2:c.1660T>A | NP_001239581.1:p.Cys554Ser |