Linked Data
dbSNP Id:
rs772530051
ExAC:
19:10463168 A / C
gnomAD v2:
19-10463168-A-C
gnomAD v4:
19-10352492-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10352492A>C , CM000681.2:g.10352492A>C | GRCh38 |
| NC_000019.9:g.10463168A>C , CM000681.1:g.10463168A>C | GRCh37 |
| NC_000019.8:g.10324168A>C | NCBI36 |
| NG_007872.1:g.33081T>G , LRG_121:g.33081T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*1609T>G | ENSP00000514307.1:n.*1609T>G | |
| ENST00000525976.6:c.3260T>G | ENSP00000434831.2:p.Phe1087Cys | |
| ENST00000527481.3:c.*30T>G | ENSP00000466340.2:n.*30T>G | |
| ENST00000529370.6:n.4636T>G | ||
| ENST00000529739.2:n.4069T>G | ||
| ENST00000530829.2:c.*2811T>G | ENSP00000436826.2:n.*2811T>G | |
| ENST00000531836.6:c.3260T>G | ENSP00000436175.2:p.Phe1087Cys | |
| ENST00000533334.2:c.*1242+434T>G | ENSP00000432320.2:n.*1242+434T>G | |
| ENST00000534228.2:n.5054+434T>G | ||
| ENST00000699354.1:n.1362T>G | ||
| ENST00000699355.1:c.*2760T>G | ENSP00000514328.1:n.*2760T>G | |
| ENST00000699356.1:n.4069T>G | ||
| ENST00000699357.1:n.5114T>G | ||
| ENST00000699358.1:c.3200+434T>G | ENSP00000514329.1:n.3200+434T>G | |
| ENST00000699359.1:c.434T>G | ||
| ENST00000699360.1:c.3218T>G | ENSP00000514331.1:p.Phe1073Cys | |
| ENST00000699361.1:n.294T>G | ||
| ENST00000699362.1:c.156T>G | ENSP00000514332.1:n.156T>G | |
| ENST00000699363.1:c.156T>G | ENSP00000514333.1:n.156T>G | |
| ENST00000699364.1:n.260T>G | ||
| ENST00000699365.1:c.329T>G | ENSP00000514334.1:p.Phe110Cys | |
| ENST00000699366.1:n.111+1322T>G | ||
| ENST00000699367.1:n.111+1322T>G | ||
| ENST00000699368.1:c.747T>G | ENSP00000514335.1:n.747T>G | |
| ENST00000525621.6:c.3260T>G MANE Select | ENSP00000431885.1:p.Phe1087Cys | |
| ENST00000264818.10:c.3260T>G | ENSP00000264818.6:p.Phe1087Cys | |
| ENST00000524462.5:c.2705T>G | ENSP00000433203.1:p.Phe902Cys | |
| ENST00000525621.5:c.3260T>G | ENSP00000431885.1:p.Phe1087Cys | |
| ENST00000525976.5:c.1T>G | ||
| ENST00000527481.2:c.437T>G | ||
| ENST00000529422.1:n.116+530T>G | ||
| ENST00000529739.1:c.329T>G | ENSP00000436155.1:p.Phe110Cys | |
| ENST00000530220.1:n.331+434T>G | ||
| ENST00000530560.5:c.338-1524T>G | ENSP00000465291.1:n.338-1524T>G | |
| ENST00000592137.1:n.414T>G | ||
| NM_003331.4:c.3260T>G , LRG_121t1:c.3260T>G | NP_003322.3:p.Phe1087Cys | |
| XM_011528245.1:c.3260T>G | XP_011526547.1:p.Phe1087Cys | |
| XM_011528246.1:c.2963T>G | XP_011526548.1:p.Phe988Cys | |
| XM_011528247.1:c.2963T>G | XP_011526549.1:p.Phe988Cys | |
| XM_011528248.1:c.3200+434T>G | XP_011526550.1:n.3200+434T>G | |
| XM_011528249.1:c.1934T>G | XP_011526551.1:p.Phe645Cys | |
| XM_011528251.1:c.1517T>G | XP_011526553.1:p.Phe506Cys | |
| XM_011528246.3:c.2963T>G | XP_011526548.1:p.Phe988Cys | |
| XM_011528249.2:c.1934T>G | XP_011526551.1:p.Phe645Cys | |
| XR_001753750.1:n.3357+434T>G | ||
| XR_001753751.1:n.3812T>G | ||
| XR_002958353.1:n.4738T>G | ||
| NM_003331.5:c.3260T>G MANE Select | NP_003322.3:p.Phe1087Cys | |
| NM_001385197.1:c.3260T>G | NP_001372126.1:p.Phe1087Cys | |
| NM_001385198.1:c.3168+466T>G | NP_001372127.1:n.3168+466T>G | |
| NM_001385199.1:c.3074T>G | NP_001372128.1:p.Phe1025Cys | |
| NM_001385200.1:c.3257T>G | NP_001372129.1:p.Phe1086Cys | |
| NM_001385201.1:c.3062T>G | NP_001372130.1:p.Phe1021Cys | |
| NM_001385202.1:c.3176T>G | NP_001372131.1:p.Phe1059Cys | |
| NM_001385203.1:c.3341T>G | NP_001372132.1:p.Phe1114Cys | |
| NM_001385204.1:c.3470T>G | NP_001372133.1:p.Phe1157Cys | |
| NM_001385205.1:c.3170T>G | NP_001372134.1:p.Phe1057Cys | |
| NM_001385206.1:c.3134T>G | NP_001372135.1:p.Phe1045Cys | |
| NM_001385207.1:c.3242T>G | NP_001372136.1:p.Phe1081Cys |