Linked Data
ClinVar Variation Id:
157685
ClinVar RCV Id:
RCV000144980
RCV000289964
RCV000381876
RCV000347248
RCV000967194
RCV001272236
RCV002266926
RCV002266925
RCV002408645
dbSNP Id:
rs75376282
ExAC:
11:17449950 G / C
gnomAD v2:
11-17449950-G-C
gnomAD v3:
11-17428403-G-C
gnomAD v4:
11-17428403-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17428403G>C , CM000673.2:g.17428403G>C | GRCh38 |
| NC_000011.9:g.17449950G>C , CM000673.1:g.17449950G>C | GRCh37 |
| NC_000011.8:g.17406526G>C | NCBI36 |
| NG_008867.1:g.53500C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.1595C>G | ||
| ENST00000529967.6:n.185C>G | ||
| ENST00000642611.2:n.1992C>G | ||
| ENST00000682051.1:n.1939C>G | ||
| ENST00000682110.1:n.1992C>G | ||
| ENST00000682140.1:c.1923C>G | ENSP00000507829.1:p.Pro641= | |
| ENST00000682185.1:n.3231C>G | ||
| ENST00000682204.1:c.*64C>G | ENSP00000507094.1:n.*64C>G | |
| ENST00000682215.1:n.1992C>G | ||
| ENST00000682288.1:c.*354C>G | ENSP00000507506.1:n.*354C>G | |
| ENST00000682442.1:n.2113C>G | ||
| ENST00000682528.1:n.1992C>G | ||
| ENST00000682673.1:n.1939C>G | ||
| ENST00000682805.1:n.1992C>G | ||
| ENST00000682965.1:c.1923C>G | ENSP00000508229.1:p.Pro641= | |
| ENST00000683093.1:n.2094C>G | ||
| ENST00000683136.1:c.1923C>G | ENSP00000507768.1:p.Pro641= | |
| ENST00000683153.1:n.2151C>G | ||
| ENST00000683253.1:n.3008C>G | ||
| ENST00000683365.1:n.2094C>G | ||
| ENST00000683377.1:n.1992C>G | ||
| ENST00000683456.1:c.1923C>G | ENSP00000508318.1:p.Pro641= | |
| ENST00000683522.1:n.1992C>G | ||
| ENST00000683562.1:c.*95C>G | ENSP00000508265.1:n.*95C>G | |
| ENST00000683693.1:n.1992C>G | ||
| ENST00000683725.1:c.1926C>G | ENSP00000507496.1:p.Pro642= | |
| ENST00000684010.1:n.1992C>G | ||
| ENST00000684157.1:n.1992C>G | ||
| ENST00000684253.1:n.1898C>G | ||
| ENST00000684288.1:c.*95C>G | ENSP00000507143.1:n.*95C>G | |
| ENST00000684313.1:n.1724-11441C>G | ||
| ENST00000684332.1:n.2065C>G | ||
| ENST00000684371.1:n.2098C>G | ||
| ENST00000684404.1:n.1992C>G | ||
| ENST00000684442.1:n.1992C>G | ||
| ENST00000684555.1:c.*135C>G | ENSP00000507705.1:n.*135C>G | |
| ENST00000684571.1:c.1767C>G | ENSP00000506935.1:p.Pro589= | |
| ENST00000684593.1:c.*1631C>G | ENSP00000507005.1:n.*1631C>G | |
| ENST00000684711.1:c.*322C>G | ENSP00000506841.1:n.*322C>G | |
| ENST00000302539.9:c.1926C>G | ENSP00000303960.4:p.Pro642= | |
| ENST00000389817.8:c.1926C>G MANE Select | ENSP00000374467.4:p.Pro642= | |
| ENST00000532728.6:c.1507C>G | ||
| ENST00000642271.1:c.1923C>G | ENSP00000493749.1:p.Pro641= | |
| ENST00000642579.1:c.7C>G | ||
| ENST00000642611.1:n.1877C>G | ||
| ENST00000642902.1:c.1761C>G | ||
| ENST00000643260.1:c.1923C>G | ENSP00000494450.1:p.Pro641= | |
| ENST00000643562.1:c.1924-6C>G | ENSP00000496124.1:n.1924-6C>G | |
| ENST00000644447.1:c.279C>G | ENSP00000496282.1:p.Pro93= | |
| ENST00000644472.1:c.*287C>G | ENSP00000495378.1:n.*287C>G | |
| ENST00000644484.1:c.*135C>G | ENSP00000493558.1:n.*135C>G | |
| ENST00000644542.1:c.*1628C>G | ENSP00000495532.1:n.*1628C>G | |
| ENST00000644649.1:c.1096C>G | ||
| ENST00000644675.1:c.*95C>G | ENSP00000494567.1:n.*95C>G | |
| ENST00000644757.1:c.*228C>G | ENSP00000495085.1:n.*228C>G | |
| ENST00000644772.1:c.1992C>G | ENSP00000494321.1:p.Pro664= | |
| ENST00000645076.1:c.1178C>G | ||
| ENST00000645744.1:c.*287C>G | ENSP00000494564.1:n.*287C>G | |
| ENST00000645760.1:c.2201C>G | ||
| ENST00000645884.1:c.1923C>G | ENSP00000495516.1:p.Pro641= | |
| ENST00000646003.1:c.*64C>G | ENSP00000495259.1:n.*64C>G | |
| ENST00000646207.1:c.*287C>G | ENSP00000495025.1:n.*287C>G | |
| ENST00000646276.1:c.*196C>G | ENSP00000496070.1:n.*196C>G | |
| ENST00000646592.1:c.1149C>G | ||
| ENST00000646902.1:c.1923C>G | ENSP00000494101.1:p.Pro641= | |
| ENST00000646993.1:c.*322C>G | ENSP00000493720.1:n.*322C>G | |
| ENST00000647013.1:c.1929C>G | ENSP00000496741.1:n.1929C>G | |
| ENST00000647015.1:c.1674C>G | ENSP00000495389.1:p.Pro558= | |
| ENST00000647086.1:c.*1653C>G | ENSP00000493677.1:n.*1653C>G | |
| ENST00000647158.1:c.*64C>G | ENSP00000495744.1:n.*64C>G | |
| ENST00000302539.8:c.1926C>G | ENSP00000303960.4:p.Pro642= | |
| ENST00000389817.7:c.1926C>G | ENSP00000374467.3:p.Pro642= | |
| ENST00000527905.5:c.1896C>G | ENSP00000431653.1:p.Pro632= | |
| NM_000352.4:c.1926C>G | NP_000343.2:p.Pro642= | |
| NM_001287174.1:c.1926C>G | NP_001274103.1:p.Pro642= | |
| XM_011520331.1:c.1923C>G | XP_011518633.1:p.Pro641= | |
| XM_011520332.1:c.1926C>G | XP_011518634.1:p.Pro642= | |
| XM_011520333.1:c.423C>G | XP_011518635.1:p.Pro141= | |
| XM_011520334.1:c.1926C>G | XP_011518636.1:p.Pro642= | |
| XR_930890.1:n.1989C>G | ||
| XR_930891.1:n.1989C>G | ||
| XR_930892.1:n.1989C>G | ||
| XR_930893.1:n.1989C>G | ||
| NM_001351295.1:c.1992C>G | NP_001338224.1:p.Pro664= | |
| NM_001351296.1:c.1923C>G | NP_001338225.1:p.Pro641= | |
| NM_001351297.1:c.1923C>G | NP_001338226.1:p.Pro641= | |
| NR_147094.1:n.1992C>G | ||
| XM_017018197.2:c.1992C>G | XP_016873686.1:p.Pro664= | |
| XM_017018199.1:c.1989C>G | XP_016873688.1:p.Pro663= | |
| XM_017018201.2:c.1992C>G | XP_016873690.1:p.Pro664= | |
| XM_017018202.1:c.489C>G | XP_016873691.1:p.Pro163= | |
| XM_017018204.1:c.-118C>G | XP_016873693.1:n.-118C>G | |
| XM_024448668.1:c.291C>G | XP_024304436.1:p.Pro97= | |
| XR_001747945.2:n.2064C>G | ||
| XR_001747946.2:n.1998C>G | ||
| XR_002957189.1:n.2064C>G | ||
| NM_000352.6:c.1926C>G MANE Select | NP_000343.2:p.Pro642= | |
| NM_001287174.2:c.1926C>G | NP_001274103.1:p.Pro642= | |
| NM_001351295.2:c.1992C>G | NP_001338224.1:p.Pro664= | |
| NM_001351296.2:c.1923C>G | NP_001338225.1:p.Pro641= | |
| NM_001351297.2:c.1923C>G | NP_001338226.1:p.Pro641= | |
| NR_147094.2:n.1992C>G | ||
| NM_001287174.3:c.1926C>G | NP_001274103.1:p.Pro642= |