Linked Data
ClinVar Variation Id:
5830
ClinVar RCV Id:
RCV000006186
dbSNP Id:
rs121908463
gnomAD v3:
16-57656244-T-A
gnomAD v4:
16-57656244-T-A
PubMed:
PMID:15044805
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57656244T>A , CM000678.2:g.57656244T>A | GRCh38 |
| NC_000016.9:g.57690156T>A , CM000678.1:g.57690156T>A | GRCh37 |
| NC_000016.8:g.56247657T>A | NCBI36 |
| NG_011643.1:g.41247T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000562558.6:c.1036T>A | ENSP00000456620.1:p.Cys346Ser | |
| ENST00000562631.7:c.1036T>A MANE Select | ENSP00000455351.2:p.Cys346Ser | |
| ENST00000565976.6:c.1036T>A | ENSP00000454933.2:p.Cys346Ser | |
| ENST00000672974.1:c.1036T>A | ENSP00000500676.1:p.Cys346Ser | |
| ENST00000673126.2:c.1036T>A | ENSP00000500185.2:p.Cys346Ser | |
| ENST00000678252.1:n.1071T>A | ||
| ENST00000388813.9:c.1036T>A | ENSP00000373465.5:p.Cys346Ser | |
| ENST00000456916.5:c.1051T>A | ENSP00000398034.2:p.Cys351Ser | |
| ENST00000540164.6:c.1036T>A | ENSP00000444911.2:p.Cys346Ser | |
| ENST00000562558.5:c.1036T>A | ENSP00000456620.1:p.Cys346Ser | |
| ENST00000562631.5:c.1036T>A | ENSP00000455351.1:p.Cys346Ser | |
| ENST00000564907.5:c.*699T>A | ENSP00000455245.1:n.*699T>A | |
| ENST00000565391.1:c.418+336T>A | ||
| ENST00000565539.5:c.*699T>A | ENSP00000457612.1:n.*699T>A | |
| ENST00000567835.5:c.1036T>A | ENSP00000456794.1:p.Cys346Ser | |
| ENST00000568908.5:c.1036T>A | ENSP00000457456.1:p.Cys346Ser | |
| ENST00000568909.5:c.1036T>A | ENSP00000455215.1:p.Cys346Ser | |
| NM_001145770.2:c.1036T>A | NP_001139242.1:p.Cys346Ser | |
| NM_001145771.2:c.1036T>A | NP_001139243.1:p.Cys346Ser | |
| NM_001145772.2:c.1036T>A | NP_001139244.1:p.Cys346Ser | |
| NM_001145773.2:c.1051T>A | NP_001139245.1:p.Cys351Ser | |
| NM_001145774.2:c.1036T>A | NP_001139246.1:p.Cys346Ser | |
| NM_001290142.1:c.526T>A | NP_001277071.1:p.Cys176Ser | |
| NM_001290143.1:c.511T>A | NP_001277072.1:p.Cys171Ser | |
| NM_001290144.1:c.511T>A | NP_001277073.1:p.Cys171Ser | |
| NM_005682.6:c.1036T>A | NP_005673.3:p.Cys346Ser | |
| NM_201524.3:c.1036T>A | NP_958932.1:p.Cys346Ser | |
| NM_201525.3:c.1036T>A | NP_958933.1:p.Cys346Ser | |
| XM_005256237.1:c.1051T>A | XP_005256294.1:p.Cys351Ser | |
| XM_005256238.1:c.1051T>A | XP_005256295.1:p.Cys351Ser | |
| XM_005256239.1:c.1051T>A | XP_005256296.1:p.Cys351Ser | |
| XM_005256240.3:c.1051T>A | XP_005256297.1:p.Cys351Ser | |
| XM_005256241.3:c.1051T>A | XP_005256298.1:p.Cys351Ser | |
| XM_005256242.3:c.1051T>A | XP_005256299.1:p.Cys351Ser | |
| XM_005256244.2:c.1051T>A | XP_005256301.1:p.Cys351Ser | |
| XM_005256245.1:c.1051T>A | XP_005256302.1:p.Cys351Ser | |
| XM_005256246.1:c.1036T>A | XP_005256303.1:p.Cys346Ser | |
| XM_005256247.1:c.1036T>A | XP_005256304.1:p.Cys346Ser | |
| XM_005256248.1:c.1036T>A | XP_005256305.1:p.Cys346Ser | |
| XM_005256249.2:c.1036T>A | XP_005256306.1:p.Cys346Ser | |
| XM_005256251.3:c.1036T>A | XP_005256308.1:p.Cys346Ser | |
| XM_005256252.1:c.1036T>A | XP_005256309.1:p.Cys346Ser | |
| XM_005256254.1:c.1036T>A | XP_005256311.1:p.Cys346Ser | |
| XM_005256255.1:c.1036T>A | XP_005256312.1:p.Cys346Ser | |
| XM_006721338.1:c.1051T>A | XP_006721401.1:p.Cys351Ser | |
| XM_006721339.2:c.1051T>A | XP_006721402.1:p.Cys351Ser | |
| XM_006721340.2:c.1051T>A | XP_006721403.1:p.Cys351Ser | |
| XM_006721341.1:c.1051T>A | XP_006721404.1:p.Cys351Ser | |
| XM_006721342.1:c.1036T>A | XP_006721405.1:p.Cys346Ser | |
| XM_006721343.2:c.1036T>A | XP_006721406.1:p.Cys346Ser | |
| XM_006721344.1:c.1036T>A | XP_006721407.1:p.Cys346Ser | |
| XM_006721345.2:c.1036T>A | XP_006721408.1:p.Cys346Ser | |
| XM_006721346.1:c.1036T>A | XP_006721409.1:p.Cys346Ser | |
| XM_006721347.1:c.1051T>A | XP_006721410.1:p.Cys351Ser | |
| XM_011523461.1:c.1051T>A | XP_011521763.1:p.Cys351Ser | |
| XM_011523462.1:c.1051T>A | XP_011521764.1:p.Cys351Ser | |
| XM_011523463.1:c.1036T>A | XP_011521765.1:p.Cys346Ser | |
| XM_011523464.1:c.1036T>A | XP_011521766.1:p.Cys346Ser | |
| XM_011523465.1:c.1036T>A | XP_011521767.1:p.Cys346Ser | |
| XM_011523466.1:c.1036T>A | XP_011521768.1:p.Cys346Ser | |
| XM_011523467.1:c.1036T>A | XP_011521769.1:p.Cys346Ser | |
| XM_011523468.1:c.1036T>A | XP_011521770.1:p.Cys346Ser | |
| XM_005256237.2:c.1051T>A | XP_005256294.1:p.Cys351Ser | |
| XM_005256238.2:c.1051T>A | XP_005256295.1:p.Cys351Ser | |
| XM_005256239.2:c.1051T>A | XP_005256296.1:p.Cys351Ser | |
| XM_005256240.4:c.1051T>A | XP_005256297.1:p.Cys351Ser | |
| XM_005256241.4:c.1051T>A | XP_005256298.1:p.Cys351Ser | |
| XM_005256242.4:c.1051T>A | XP_005256299.1:p.Cys351Ser | |
| XM_005256244.3:c.1051T>A | XP_005256301.1:p.Cys351Ser | |
| XM_005256245.2:c.1051T>A | XP_005256302.1:p.Cys351Ser | |
| XM_005256246.2:c.1036T>A | XP_005256303.1:p.Cys346Ser | |
| XM_005256247.2:c.1036T>A | XP_005256304.1:p.Cys346Ser | |
| XM_005256248.2:c.1036T>A | XP_005256305.1:p.Cys346Ser | |
| XM_005256249.3:c.1036T>A | XP_005256306.1:p.Cys346Ser | |
| XM_005256251.4:c.1036T>A | XP_005256308.1:p.Cys346Ser | |
| XM_005256252.2:c.1036T>A | XP_005256309.1:p.Cys346Ser | |
| XM_005256254.2:c.1036T>A | XP_005256311.1:p.Cys346Ser | |
| XM_005256255.2:c.1036T>A | XP_005256312.1:p.Cys346Ser | |
| XM_006721338.2:c.1051T>A | XP_006721401.1:p.Cys351Ser | |
| XM_006721339.4:c.1051T>A | XP_006721402.1:p.Cys351Ser | |
| XM_006721340.3:c.1051T>A | XP_006721403.1:p.Cys351Ser | |
| XM_006721341.2:c.1051T>A | XP_006721404.1:p.Cys351Ser | |
| XM_006721342.2:c.1036T>A | XP_006721405.1:p.Cys346Ser | |
| XM_006721343.3:c.1036T>A | XP_006721406.1:p.Cys346Ser | |
| XM_006721344.2:c.1036T>A | XP_006721407.1:p.Cys346Ser | |
| XM_006721345.3:c.1036T>A | XP_006721408.1:p.Cys346Ser | |
| XM_006721346.2:c.1036T>A | XP_006721409.1:p.Cys346Ser | |
| XM_006721347.2:c.1051T>A | XP_006721410.1:p.Cys351Ser | |
| XM_011523461.2:c.1051T>A | XP_011521763.1:p.Cys351Ser | |
| XM_011523462.2:c.1051T>A | XP_011521764.1:p.Cys351Ser | |
| XM_011523463.2:c.1036T>A | XP_011521765.1:p.Cys346Ser | |
| XM_011523464.2:c.1036T>A | XP_011521766.1:p.Cys346Ser | |
| XM_011523465.2:c.1036T>A | XP_011521767.1:p.Cys346Ser | |
| XM_011523466.2:c.1036T>A | XP_011521768.1:p.Cys346Ser | |
| XM_011523467.2:c.1036T>A | XP_011521769.1:p.Cys346Ser | |
| XM_011523468.2:c.1036T>A | XP_011521770.1:p.Cys346Ser | |
| XM_017023892.1:c.1036T>A | XP_016879381.1:p.Cys346Ser | |
| NM_001145770.3:c.1036T>A | NP_001139242.1:p.Cys346Ser | |
| NM_001145771.3:c.1036T>A | NP_001139243.1:p.Cys346Ser | |
| NM_001145772.3:c.1036T>A | NP_001139244.1:p.Cys346Ser | |
| NM_001145773.3:c.1051T>A | NP_001139245.1:p.Cys351Ser | |
| NM_001145774.3:c.1036T>A | NP_001139246.1:p.Cys346Ser | |
| NM_001290142.2:c.526T>A | NP_001277071.1:p.Cys176Ser | |
| NM_001290143.2:c.511T>A | NP_001277072.1:p.Cys171Ser | |
| NM_001290144.2:c.511T>A | NP_001277073.1:p.Cys171Ser | |
| NM_001370428.1:c.1036T>A | NP_001357357.1:p.Cys346Ser | |
| NM_001370429.1:c.1036T>A | NP_001357358.1:p.Cys346Ser | |
| NM_001370430.1:c.1036T>A | NP_001357359.1:p.Cys346Ser | |
| NM_001370431.1:c.1036T>A | NP_001357360.1:p.Cys346Ser | |
| NM_001370432.1:c.1036T>A | NP_001357361.1:p.Cys346Ser | |
| NM_001370433.1:c.1051T>A | NP_001357362.1:p.Cys351Ser | |
| NM_001370434.1:c.1033T>A | NP_001357363.1:p.Cys345Ser | |
| NM_001370435.1:c.1036T>A | NP_001357364.1:p.Cys346Ser | |
| NM_001370436.1:c.1036T>A | NP_001357365.1:p.Cys346Ser | |
| NM_001370437.1:c.1036T>A | NP_001357366.1:p.Cys346Ser | |
| NM_001370438.1:c.1036T>A | NP_001357367.1:p.Cys346Ser | |
| NM_001370439.1:c.1036T>A | NP_001357368.1:p.Cys346Ser | |
| NM_001370440.1:c.1036T>A | NP_001357369.1:p.Cys346Ser | |
| NM_001370441.1:c.1033T>A | NP_001357370.1:p.Cys345Ser | |
| NM_001370442.1:c.880T>A | NP_001357371.1:p.Cys294Ser | |
| NM_001370451.1:c.511T>A | NP_001357380.1:p.Cys171Ser | |
| NM_001370453.1:c.511T>A | NP_001357382.1:p.Cys171Ser | |
| NM_001370454.1:c.511T>A | NP_001357383.1:p.Cys171Ser | |
| NM_005682.7:c.1036T>A | NP_005673.3:p.Cys346Ser | |
| NM_201524.4:c.1036T>A | NP_958932.1:p.Cys346Ser | |
| NM_201525.4:c.1036T>A MANE Select | NP_958933.1:p.Cys346Ser |