Linked Data
ClinVar Variation Id:
303751
dbSNP Id:
rs373478721
ExAC:
11:17417225 C / A
gnomAD v2:
11-17417225-C-A
gnomAD v3:
11-17395678-C-A
gnomAD v4:
11-17395678-C-A
COSMIC:
COSM4621493
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395678C>A , CM000673.2:g.17395678C>A | GRCh38 |
| NC_000011.9:g.17417225C>A , CM000673.1:g.17417225C>A | GRCh37 |
| NC_000011.8:g.17373801C>A | NCBI36 |
| NG_008867.1:g.86225G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3840G>T | ||
| ENST00000528374.2:c.830G>T | ||
| ENST00000529967.6:n.2578G>T | ||
| ENST00000532220.2:n.3472G>T | ||
| ENST00000642611.2:n.5572G>T | ||
| ENST00000644057.2:n.815G>T | ||
| ENST00000645004.2:n.1738G>T | ||
| ENST00000682051.1:n.4401G>T | ||
| ENST00000682110.1:n.4454G>T | ||
| ENST00000682140.1:c.*25G>T | ENSP00000507829.1:n.*25G>T | |
| ENST00000682185.1:n.5544G>T | ||
| ENST00000682204.1:c.*2377G>T | ENSP00000507094.1:n.*2377G>T | |
| ENST00000682215.1:n.4821G>T | ||
| ENST00000682288.1:c.*2670G>T | ENSP00000507506.1:n.*2670G>T | |
| ENST00000682442.1:n.4674G>T | ||
| ENST00000682528.1:n.4531G>T | ||
| ENST00000682673.1:n.4398G>T | ||
| ENST00000682805.1:n.4859G>T | ||
| ENST00000682965.1:c.*661G>T | ENSP00000508229.1:n.*661G>T | |
| ENST00000683093.1:n.5538G>T | ||
| ENST00000683136.1:c.4122G>T | ENSP00000507768.1:p.Pro1374= | |
| ENST00000683153.1:n.4496G>T | ||
| ENST00000683365.1:n.4556G>T | ||
| ENST00000683377.1:n.4454G>T | ||
| ENST00000683456.1:c.*1376G>T | ENSP00000508318.1:n.*1376G>T | |
| ENST00000683522.1:n.4454G>T | ||
| ENST00000683562.1:c.*2408G>T | ENSP00000508265.1:n.*2408G>T | |
| ENST00000683693.1:n.6019G>T | ||
| ENST00000683725.1:c.4239G>T | ENSP00000507496.1:p.Pro1413= | |
| ENST00000684010.1:n.4449G>T | ||
| ENST00000684157.1:n.5439G>T | ||
| ENST00000684253.1:n.4357G>T | ||
| ENST00000684288.1:c.*2411G>T | ENSP00000507143.1:n.*2411G>T | |
| ENST00000684313.1:n.3886G>T | ||
| ENST00000684332.1:n.4527G>T | ||
| ENST00000684371.1:n.4560G>T | ||
| ENST00000684404.1:n.5482G>T | ||
| ENST00000684442.1:n.4678G>T | ||
| ENST00000684555.1:c.*2451G>T | ENSP00000507705.1:n.*2451G>T | |
| ENST00000684571.1:c.4080G>T | ENSP00000506935.1:p.Pro1360= | |
| ENST00000684593.1:c.*3944G>T | ENSP00000507005.1:n.*3944G>T | |
| ENST00000684711.1:c.*2635G>T | ENSP00000506841.1:n.*2635G>T | |
| ENST00000302539.9:c.4242G>T | ENSP00000303960.4:p.Pro1414= | |
| ENST00000389817.8:c.4239G>T MANE Select | ENSP00000374467.4:p.Pro1413= | |
| ENST00000642271.1:c.4236G>T | ENSP00000493749.1:p.Pro1412= | |
| ENST00000642579.1:c.2293G>T | ||
| ENST00000642611.1:n.5457G>T | ||
| ENST00000642902.1:c.4021G>T | ||
| ENST00000643260.1:c.4239G>T | ENSP00000494450.1:p.Pro1413= | |
| ENST00000643562.1:c.*2361G>T | ENSP00000496124.1:n.*2361G>T | |
| ENST00000643925.1:c.2879G>T | ||
| ENST00000644057.1:n.316G>T | ||
| ENST00000644484.1:c.*3625G>T | ENSP00000493558.1:n.*3625G>T | |
| ENST00000644675.1:c.*2411G>T | ENSP00000494567.1:n.*2411G>T | |
| ENST00000644757.1:c.*3202+586G>T | ENSP00000495085.1:n.*3202+586G>T | |
| ENST00000644772.1:c.4305G>T | ENSP00000494321.1:p.Pro1435= | |
| ENST00000645004.1:n.1932G>T | ||
| ENST00000645076.1:c.3438G>T | ||
| ENST00000645417.1:c.1427G>T | ||
| ENST00000645744.1:c.*3964-40G>T | ENSP00000494564.1:n.*3964-40G>T | |
| ENST00000645760.1:c.4660G>T | ||
| ENST00000645884.1:c.*1522G>T | ENSP00000495516.1:n.*1522G>T | |
| ENST00000646003.1:c.*2301-40G>T | ENSP00000495259.1:n.*2301-40G>T | |
| ENST00000646207.1:c.*3076G>T | ENSP00000495025.1:n.*3076G>T | |
| ENST00000646276.1:c.*3643G>T | ENSP00000496070.1:n.*3643G>T | |
| ENST00000646592.1:c.3545G>T | ||
| ENST00000646902.1:c.4206G>T | ENSP00000494101.1:p.Pro1402= | |
| ENST00000646993.1:c.*2781G>T | ENSP00000493720.1:n.*2781G>T | |
| ENST00000647013.1:c.4245G>T | ENSP00000496741.1:n.4245G>T | |
| ENST00000647015.1:c.3990G>T | ENSP00000495389.1:p.Pro1330= | |
| ENST00000647086.1:c.*3825G>T | ENSP00000493677.1:n.*3825G>T | |
| ENST00000647158.1:c.*2526G>T | ENSP00000495744.1:n.*2526G>T | |
| ENST00000302539.8:c.4242G>T | ENSP00000303960.4:p.Pro1414= | |
| ENST00000389817.7:c.4239G>T | ENSP00000374467.3:p.Pro1413= | |
| ENST00000525022.1:n.238G>T | ||
| ENST00000526037.5:n.103G>T | ||
| ENST00000526168.5:c.67-40G>T | ||
| ENST00000531642.5:c.75G>T | ||
| NM_000352.4:c.4239G>T | NP_000343.2:p.Pro1413= | |
| NM_001287174.1:c.4242G>T | NP_001274103.1:p.Pro1414= | |
| XM_011520331.1:c.4239G>T | XP_011518633.1:p.Pro1413= | |
| XM_011520332.1:c.4242G>T | XP_011518634.1:p.Pro1414= | |
| XM_011520333.1:c.2739G>T | XP_011518635.1:p.Pro913= | |
| XR_930890.1:n.4305G>T | ||
| NM_001351295.1:c.4305G>T | NP_001338224.1:p.Pro1435= | |
| NM_001351296.1:c.4239G>T | NP_001338225.1:p.Pro1413= | |
| NM_001351297.1:c.4236G>T | NP_001338226.1:p.Pro1412= | |
| NR_147094.1:n.4534G>T | ||
| XM_017018197.2:c.4308G>T | XP_016873686.1:p.Pro1436= | |
| XM_017018199.1:c.4305G>T | XP_016873688.1:p.Pro1435= | |
| XM_017018201.2:c.4308G>T | XP_016873690.1:p.Pro1436= | |
| XM_017018202.1:c.2805G>T | XP_016873691.1:p.Pro935= | |
| XM_017018204.1:c.2196G>T | XP_016873693.1:p.Pro732= | |
| XM_024448668.1:c.2607G>T | XP_024304436.1:p.Pro869= | |
| XR_001747945.2:n.4380G>T | ||
| XR_001747946.2:n.4311G>T | ||
| XR_002957189.1:n.6094G>T | ||
| NM_000352.6:c.4239G>T MANE Select | NP_000343.2:p.Pro1413= | |
| NM_001287174.2:c.4242G>T | NP_001274103.1:p.Pro1414= | |
| NM_001351295.2:c.4305G>T | NP_001338224.1:p.Pro1435= | |
| NM_001351296.2:c.4239G>T | NP_001338225.1:p.Pro1413= | |
| NM_001351297.2:c.4236G>T | NP_001338226.1:p.Pro1412= | |
| NR_147094.2:n.4534G>T | ||
| NM_001287174.3:c.4242G>T | NP_001274103.1:p.Pro1414= |