Linked Data
ClinVar Variation Id:
157684
ClinVar RCV Id:
RCV000144979
RCV000302706
RCV000402117
RCV000576376
RCV001272238
RCV001520136
RCV001533249
RCV001533248
RCV002226677
dbSNP Id:
rs1799857
ExAC:
11:17452492 G / A
gnomAD v2:
11-17452492-G-A
gnomAD v3:
11-17430945-G-A
gnomAD v4:
11-17430945-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17430945G>A , CM000673.2:g.17430945G>A | GRCh38 |
| NC_000011.9:g.17452492G>A , CM000673.1:g.17452492G>A | GRCh37 |
| NC_000011.8:g.17409068G>A | NCBI36 |
| NG_008867.1:g.50958C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.1323C>T | ||
| ENST00000526002.2:n.1713C>T | ||
| ENST00000528202.6:n.1825C>T | ||
| ENST00000642611.2:n.1752C>T | ||
| ENST00000682051.1:n.1699C>T | ||
| ENST00000682110.1:n.1752C>T | ||
| ENST00000682140.1:c.1683C>T | ENSP00000507829.1:p.His561= | |
| ENST00000682185.1:n.2991C>T | ||
| ENST00000682204.1:c.1668+1259C>T | ENSP00000507094.1:n.1668+1259C>T | |
| ENST00000682215.1:n.1752C>T | ||
| ENST00000682288.1:c.*82C>T | ENSP00000507506.1:n.*82C>T | |
| ENST00000682442.1:n.1873C>T | ||
| ENST00000682528.1:n.1752C>T | ||
| ENST00000682673.1:n.1699C>T | ||
| ENST00000682805.1:n.1752C>T | ||
| ENST00000682965.1:c.1683C>T | ENSP00000508229.1:p.His561= | |
| ENST00000683093.1:n.1854C>T | ||
| ENST00000683136.1:c.1683C>T | ENSP00000507768.1:p.His561= | |
| ENST00000683153.1:n.1752C>T | ||
| ENST00000683253.1:n.2768C>T | ||
| ENST00000683365.1:n.1854C>T | ||
| ENST00000683377.1:n.1752C>T | ||
| ENST00000683456.1:c.1683C>T | ENSP00000508318.1:p.His561= | |
| ENST00000683522.1:n.1752C>T | ||
| ENST00000683531.1:n.1755C>T | ||
| ENST00000683562.1:c.1686C>T | ENSP00000508265.1:p.His562= | |
| ENST00000683693.1:n.1752C>T | ||
| ENST00000683725.1:c.1686C>T | ENSP00000507496.1:p.His562= | |
| ENST00000684010.1:n.1752C>T | ||
| ENST00000684157.1:n.1752C>T | ||
| ENST00000684253.1:n.1789+1259C>T | ||
| ENST00000684288.1:c.1686C>T | ENSP00000507143.1:p.His562= | |
| ENST00000684313.1:n.1723+11775C>T | ||
| ENST00000684332.1:n.1825C>T | ||
| ENST00000684371.1:n.1699C>T | ||
| ENST00000684404.1:n.1752C>T | ||
| ENST00000684442.1:n.1752C>T | ||
| ENST00000684555.1:c.1671+1259C>T | ENSP00000507705.1:n.1671+1259C>T | |
| ENST00000684571.1:c.1527C>T | ENSP00000506935.1:p.His509= | |
| ENST00000684593.1:c.*1391C>T | ENSP00000507005.1:n.*1391C>T | |
| ENST00000684711.1:c.*82C>T | ENSP00000506841.1:n.*82C>T | |
| ENST00000302539.9:c.1686C>T | ENSP00000303960.4:p.His562= | |
| ENST00000389817.8:c.1686C>T MANE Select | ENSP00000374467.4:p.His562= | |
| ENST00000532728.6:c.1398+1259C>T | ||
| ENST00000635881.1:n.1714C>T | ||
| ENST00000642271.1:c.1683C>T | ENSP00000493749.1:p.His561= | |
| ENST00000642611.1:n.1637C>T | ||
| ENST00000642902.1:c.1652+1259C>T | ||
| ENST00000643260.1:c.1683C>T | ENSP00000494450.1:p.His561= | |
| ENST00000643562.1:c.1686C>T | ENSP00000496124.1:p.His562= | |
| ENST00000644447.1:c.39C>T | ENSP00000496282.1:p.His13= | |
| ENST00000644472.1:c.*47C>T | ENSP00000495378.1:n.*47C>T | |
| ENST00000644484.1:c.1668+1259C>T | ENSP00000493558.1:n.1668+1259C>T | |
| ENST00000644542.1:c.*1388C>T | ENSP00000495532.1:n.*1388C>T | |
| ENST00000644649.1:c.856C>T | ||
| ENST00000644675.1:c.1683C>T | ENSP00000494567.1:p.His561= | |
| ENST00000644757.1:c.*87+1259C>T | ENSP00000495085.1:n.*87+1259C>T | |
| ENST00000644772.1:c.1686C>T | ENSP00000494321.1:p.His562= | |
| ENST00000645076.1:c.968C>T | ||
| ENST00000645744.1:c.*47C>T | ENSP00000494564.1:n.*47C>T | |
| ENST00000645760.1:c.1961C>T | ||
| ENST00000645884.1:c.1683C>T | ENSP00000495516.1:p.His561= | |
| ENST00000646003.1:c.1668+1259C>T | ENSP00000495259.1:n.1668+1259C>T | |
| ENST00000646207.1:c.*47C>T | ENSP00000495025.1:n.*47C>T | |
| ENST00000646276.1:c.*87+1259C>T | ENSP00000496070.1:n.*87+1259C>T | |
| ENST00000646592.1:c.882-2275C>T | ||
| ENST00000646902.1:c.1683C>T | ENSP00000494101.1:p.His561= | |
| ENST00000646993.1:c.*82C>T | ENSP00000493720.1:n.*82C>T | |
| ENST00000647013.1:c.1657C>T | ENSP00000496741.1:n.1657C>T | |
| ENST00000647015.1:c.1671+1259C>T | ENSP00000495389.1:n.1671+1259C>T | |
| ENST00000647086.1:c.1683C>T | ENSP00000493677.1:p.His561= | |
| ENST00000647158.1:c.1668+1259C>T | ENSP00000495744.1:n.1668+1259C>T | |
| ENST00000302539.8:c.1686C>T | ENSP00000303960.4:p.His562= | |
| ENST00000389817.7:c.1686C>T | ENSP00000374467.3:p.His562= | |
| ENST00000526002.1:n.475C>T | ||
| ENST00000527905.5:c.1686C>T | ENSP00000431653.1:p.His562= | |
| ENST00000528202.5:n.201C>T | ||
| ENST00000532728.5:n.1717C>T | ||
| NM_000352.4:c.1686C>T | NP_000343.2:p.His562= | |
| NM_001287174.1:c.1686C>T | NP_001274103.1:p.His562= | |
| XM_011520331.1:c.1683C>T | XP_011518633.1:p.His561= | |
| XM_011520332.1:c.1686C>T | XP_011518634.1:p.His562= | |
| XM_011520333.1:c.183C>T | XP_011518635.1:p.His61= | |
| XM_011520334.1:c.1686C>T | XP_011518636.1:p.His562= | |
| XR_930890.1:n.1749C>T | ||
| XR_930891.1:n.1749C>T | ||
| XR_930892.1:n.1749C>T | ||
| XR_930893.1:n.1749C>T | ||
| NM_001351295.1:c.1686C>T | NP_001338224.1:p.His562= | |
| NM_001351296.1:c.1683C>T | NP_001338225.1:p.His561= | |
| NM_001351297.1:c.1683C>T | NP_001338226.1:p.His561= | |
| NR_147094.1:n.1752C>T | ||
| XM_017018197.2:c.1686C>T | XP_016873686.1:p.His562= | |
| XM_017018199.1:c.1683C>T | XP_016873688.1:p.His561= | |
| XM_017018201.2:c.1686C>T | XP_016873690.1:p.His562= | |
| XM_017018202.1:c.183C>T | XP_016873691.1:p.His61= | |
| XM_017018204.1:c.-358C>T | XP_016873693.1:n.-358C>T | |
| XM_024448668.1:c.51C>T | XP_024304436.1:p.His17= | |
| XR_001747945.2:n.1758C>T | ||
| XR_001747946.2:n.1758C>T | ||
| XR_002957189.1:n.1758C>T | ||
| NM_000352.6:c.1686C>T MANE Select | NP_000343.2:p.His562= | |
| NM_001287174.2:c.1686C>T | NP_001274103.1:p.His562= | |
| NM_001351295.2:c.1686C>T | NP_001338224.1:p.His562= | |
| NM_001351296.2:c.1683C>T | NP_001338225.1:p.His561= | |
| NM_001351297.2:c.1683C>T | NP_001338226.1:p.His561= | |
| NR_147094.2:n.1752C>T | ||
| NM_001287174.3:c.1686C>T | NP_001274103.1:p.His562= |