WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
dbSNP Id:
rs3740194
gnomAD v2:
10-11297309-T-C
gnomAD v3:
10-11255346-T-C
gnomAD v4:
10-11255346-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.11255346T>C , CM000672.2:g.11255346T>C | GRCh38 |
| NC_000010.10:g.11297309T>C , CM000672.1:g.11297309T>C | GRCh37 |
| NC_000010.9:g.11337315T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000633077.2:c.404-2392T>C MANE Select | ENSP00000488690.1:n.404-2392T>C | |
| ENST00000636488.1:c.419-2392T>C | ENSP00000489955.1:n.419-2392T>C | |
| ENST00000637215.1:c.419-2392T>C | ENSP00000490185.1:n.419-2392T>C | |
| ENST00000638035.1:c.311-2392T>C | ENSP00000490401.1:n.311-2392T>C | |
| ENST00000354897.3:c.311-2392T>C | ENSP00000346971.3:n.311-2392T>C | |
| ENST00000399850.7:c.311-2392T>C | ENSP00000382743.3:n.311-2392T>C | |
| ENST00000416382.6:c.383-2392T>C | ENSP00000406451.2:n.383-2392T>C | |
| ENST00000417956.6:c.311-2392T>C | ENSP00000404834.3:n.311-2392T>C | |
| ENST00000542579.5:c.404-2392T>C | ENSP00000443926.1:n.404-2392T>C | |
| ENST00000608830.5:c.311-2392T>C | ENSP00000476999.1:n.311-2392T>C | |
| ENST00000609692.5:c.311-2392T>C | ENSP00000476656.1:n.311-2392T>C | |
| ENST00000609870.5:c.*15-2392T>C | ENSP00000476392.1:n.*15-2392T>C | |
| ENST00000631460.1:c.383-2392T>C | ENSP00000488582.1:n.383-2392T>C | |
| ENST00000631816.1:c.383-2392T>C | ENSP00000488268.1:n.383-2392T>C | |
| ENST00000632065.1:c.404-2392T>C | ENSP00000488422.1:n.404-2392T>C | |
| ENST00000632728.1:c.311-2392T>C | ENSP00000487802.1:n.311-2392T>C | |
| ENST00000633077.1:c.404-2392T>C | ENSP00000488690.1:n.404-2392T>C | |
| ENST00000633200.1:c.*15-2392T>C | ENSP00000488438.1:n.*15-2392T>C | |
| NM_001025076.2:c.311-2392T>C | NP_001020247.1:n.311-2392T>C | |
| NM_001025077.2:c.383-2392T>C | NP_001020248.1:n.383-2392T>C | |
| NM_001083591.1:c.311-2392T>C | NP_001077060.1:n.311-2392T>C | |
| NM_006561.3:c.404-2392T>C | NP_006552.3:n.404-2392T>C | |
| XM_005252354.3:c.383-2392T>C | XP_005252411.1:n.383-2392T>C | |
| XM_005252357.3:c.-222-2392T>C | XP_005252414.1:n.-222-2392T>C | |
| XM_005252358.3:c.-222-2392T>C | XP_005252415.1:n.-222-2392T>C | |
| XM_006717369.2:c.404-2392T>C | XP_006717432.1:n.404-2392T>C | |
| XM_006717370.2:c.383-2392T>C | XP_006717433.1:n.383-2392T>C | |
| XM_006717371.2:c.50-2392T>C | XP_006717434.1:n.50-2392T>C | |
| XM_006717373.2:c.50-2392T>C | XP_006717436.1:n.50-2392T>C | |
| XM_006717374.2:c.-222-2392T>C | XP_006717437.1:n.-222-2392T>C | |
| XM_006717375.2:c.-222-2392T>C | XP_006717438.1:n.-222-2392T>C | |
| XM_011519294.1:c.383-2392T>C | XP_011517596.1:n.383-2392T>C | |
| XM_011519295.1:c.311-2392T>C | XP_011517597.1:n.311-2392T>C | |
| XM_011519296.1:c.311-2392T>C | XP_011517598.1:n.311-2392T>C | |
| XM_011519297.1:c.311-2392T>C | XP_011517599.1:n.311-2392T>C | |
| XM_011519298.1:c.311-2392T>C | XP_011517600.1:n.311-2392T>C | |
| XM_011519299.1:c.50-2392T>C | XP_011517601.1:n.50-2392T>C | |
| NM_001326317.1:c.311-2392T>C | NP_001313246.1:n.311-2392T>C | |
| NM_001326318.1:c.311-2392T>C | NP_001313247.1:n.311-2392T>C | |
| NM_001326319.1:c.311-2392T>C | NP_001313248.1:n.311-2392T>C | |
| NM_001326320.1:c.311-2392T>C | NP_001313249.1:n.311-2392T>C | |
| NM_001326321.1:c.311-2392T>C | NP_001313250.1:n.311-2392T>C | |
| NM_001326323.1:c.311-2392T>C | NP_001313252.1:n.311-2392T>C | |
| NM_001326324.1:c.311-2392T>C | NP_001313253.1:n.311-2392T>C | |
| NM_001326325.1:c.476-2392T>C | NP_001313254.1:n.476-2392T>C | |
| NM_001326326.1:c.419-2392T>C | NP_001313255.1:n.419-2392T>C | |
| NM_001326327.1:c.419-2392T>C | NP_001313256.1:n.419-2392T>C | |
| NM_001326328.1:c.311-2392T>C | NP_001313257.1:n.311-2392T>C | |
| NM_001326329.1:c.311-2392T>C | NP_001313258.1:n.311-2392T>C | |
| NM_001326330.1:c.311-2392T>C | NP_001313259.1:n.311-2392T>C | |
| NM_001326331.1:c.383-2392T>C | NP_001313260.1:n.383-2392T>C | |
| NM_001326332.1:c.383-2392T>C | NP_001313261.1:n.383-2392T>C | |
| NM_001326333.1:c.-222-2392T>C | NP_001313262.1:n.-222-2392T>C | |
| NM_001326334.1:c.311-2392T>C | NP_001313263.1:n.311-2392T>C | |
| NM_001326335.1:c.383-2392T>C | NP_001313264.1:n.383-2392T>C | |
| NM_001326336.1:c.383-2392T>C | NP_001313265.1:n.383-2392T>C | |
| NM_001326337.1:c.383-2392T>C | NP_001313266.1:n.383-2392T>C | |
| NM_001326338.1:c.50-2392T>C | NP_001313267.1:n.50-2392T>C | |
| NM_001326339.1:c.50-2392T>C | NP_001313268.1:n.50-2392T>C | |
| NM_001326340.1:c.404-2392T>C | NP_001313269.1:n.404-2392T>C | |
| NM_001326341.1:c.404-2392T>C | NP_001313270.1:n.404-2392T>C | |
| NM_001326342.1:c.404-2392T>C | NP_001313271.1:n.404-2392T>C | |
| NM_001326343.1:c.404-2392T>C | NP_001313272.1:n.404-2392T>C | |
| NM_001326344.1:c.311-2392T>C | NP_001313273.1:n.311-2392T>C | |
| NM_001326345.1:c.311-2392T>C | NP_001313274.1:n.311-2392T>C | |
| NM_001326346.1:c.-222-2392T>C | NP_001313275.1:n.-222-2392T>C | |
| NM_001326347.1:c.335-2392T>C | NP_001313276.1:n.335-2392T>C | |
| NM_001326348.1:c.311-2392T>C | NP_001313277.1:n.311-2392T>C | |
| NM_001326349.1:c.311-2392T>C | NP_001313278.1:n.311-2392T>C | |
| XM_005252357.4:c.-222-2392T>C | XP_005252414.1:n.-222-2392T>C | |
| XM_017015543.1:c.404-2392T>C | XP_016871032.1:n.404-2392T>C | |
| XM_017015545.1:c.404-2392T>C | XP_016871034.1:n.404-2392T>C | |
| XM_017015546.1:c.404-2392T>C | XP_016871035.1:n.404-2392T>C | |
| XM_017015547.1:c.383-2392T>C | XP_016871036.1:n.383-2392T>C | |
| XM_017015548.1:c.404-2392T>C | XP_016871037.1:n.404-2392T>C | |
| XM_017015550.2:c.383-2392T>C | XP_016871039.1:n.383-2392T>C | |
| XM_017015552.1:c.311-2392T>C | XP_016871041.1:n.311-2392T>C | |
| XM_017015556.1:c.50-2392T>C | XP_016871045.1:n.50-2392T>C | |
| XM_017015557.1:c.50-2392T>C | XP_016871046.1:n.50-2392T>C | |
| XM_017015558.1:c.50-2392T>C | XP_016871047.1:n.50-2392T>C | |
| XM_017015560.2:c.50-2392T>C | XP_016871049.1:n.50-2392T>C | |
| XM_017015562.1:c.50-2392T>C | XP_016871051.1:n.50-2392T>C | |
| XM_017015564.2:c.-222-2392T>C | XP_016871053.1:n.-222-2392T>C | |
| XM_017015565.1:c.-222-2392T>C | XP_016871054.1:n.-222-2392T>C | |
| XM_017015566.2:c.-222-2392T>C | XP_016871055.1:n.-222-2392T>C | |
| XM_017015568.2:c.-222-2392T>C | XP_016871057.1:n.-222-2392T>C | |
| XM_017015569.1:c.-222-2392T>C | XP_016871058.1:n.-222-2392T>C | |
| XM_017015570.1:c.-222-2392T>C | XP_016871059.1:n.-222-2392T>C | |
| XM_017015571.1:c.-222-2392T>C | XP_016871060.1:n.-222-2392T>C | |
| XM_017015572.1:c.-222-2392T>C | XP_016871061.1:n.-222-2392T>C | |
| XM_024447772.1:c.476-2392T>C | XP_024303540.1:n.476-2392T>C | |
| XM_024447773.1:c.419-2392T>C | XP_024303541.1:n.419-2392T>C | |
| XM_024447774.1:c.419-2392T>C | XP_024303542.1:n.419-2392T>C | |
| XM_024447775.1:c.419-2392T>C | XP_024303543.1:n.419-2392T>C | |
| XM_024447776.1:c.383-2392T>C | XP_024303544.1:n.383-2392T>C | |
| XM_024447777.1:c.50-2392T>C | XP_024303545.1:n.50-2392T>C | |
| XM_024447778.1:c.-222-2392T>C | XP_024303546.1:n.-222-2392T>C | |
| XM_024447779.1:c.-222-2392T>C | XP_024303547.1:n.-222-2392T>C | |
| XM_024447780.1:c.-222-2392T>C | XP_024303548.1:n.-222-2392T>C | |
| NM_001025077.3:c.383-2392T>C | NP_001020248.1:n.383-2392T>C | |
| NM_001326317.2:c.311-2392T>C | NP_001313246.1:n.311-2392T>C | |
| NM_001326318.2:c.311-2392T>C | NP_001313247.1:n.311-2392T>C | |
| NM_001326319.2:c.311-2392T>C | NP_001313248.1:n.311-2392T>C | |
| NM_001326320.2:c.311-2392T>C | NP_001313249.1:n.311-2392T>C | |
| NM_001326321.2:c.311-2392T>C | NP_001313250.1:n.311-2392T>C | |
| NM_001326323.2:c.311-2392T>C | NP_001313252.1:n.311-2392T>C | |
| NM_001326324.2:c.311-2392T>C | NP_001313253.1:n.311-2392T>C | |
| NM_001326325.2:c.476-2392T>C | NP_001313254.1:n.476-2392T>C | |
| NM_001326326.2:c.419-2392T>C | NP_001313255.1:n.419-2392T>C | |
| NM_001326327.2:c.419-2392T>C | NP_001313256.1:n.419-2392T>C | |
| NM_001326328.2:c.311-2392T>C | NP_001313257.1:n.311-2392T>C | |
| NM_001326329.2:c.311-2392T>C | NP_001313258.1:n.311-2392T>C | |
| NM_001326330.2:c.311-2392T>C | NP_001313259.1:n.311-2392T>C | |
| NM_001326331.2:c.383-2392T>C | NP_001313260.1:n.383-2392T>C | |
| NM_001326332.2:c.383-2392T>C | NP_001313261.1:n.383-2392T>C | |
| NM_001326333.2:c.-222-2392T>C | NP_001313262.1:n.-222-2392T>C | |
| NM_001326334.2:c.311-2392T>C | NP_001313263.1:n.311-2392T>C | |
| NM_001326335.2:c.383-2392T>C | NP_001313264.1:n.383-2392T>C | |
| NM_001326336.2:c.383-2392T>C | NP_001313265.1:n.383-2392T>C | |
| NM_001326337.2:c.383-2392T>C | NP_001313266.1:n.383-2392T>C | |
| NM_001326338.2:c.50-2392T>C | NP_001313267.1:n.50-2392T>C | |
| NM_001326339.2:c.50-2392T>C | NP_001313268.1:n.50-2392T>C | |
| NM_001326340.2:c.404-2392T>C | NP_001313269.1:n.404-2392T>C | |
| NM_001326341.2:c.404-2392T>C | NP_001313270.1:n.404-2392T>C | |
| NM_001326342.2:c.404-2392T>C MANE Select | NP_001313271.1:n.404-2392T>C | |
| NM_001326343.2:c.404-2392T>C | NP_001313272.1:n.404-2392T>C | |
| NM_001326344.2:c.311-2392T>C | NP_001313273.1:n.311-2392T>C | |
| NM_001326345.2:c.311-2392T>C | NP_001313274.1:n.311-2392T>C | |
| NM_001326346.2:c.-222-2392T>C | NP_001313275.1:n.-222-2392T>C | |
| NM_001326348.2:c.311-2392T>C | NP_001313277.1:n.311-2392T>C | |
| NM_001326349.2:c.311-2392T>C | NP_001313278.1:n.311-2392T>C | |
| NM_006561.4:c.404-2392T>C | NP_006552.3:n.404-2392T>C | |
| NM_001394502.1:c.383-2392T>C | NP_001381431.1:n.383-2392T>C | |
| NM_001394513.1:c.404-2392T>C | NP_001381442.1:n.404-2392T>C | |
| NM_001394517.1:c.311-2392T>C | NP_001381446.1:n.311-2392T>C | |
| NM_001394518.1:c.404-2392T>C | NP_001381447.1:n.404-2392T>C | |
| NM_001394519.1:c.404-2392T>C | NP_001381448.1:n.404-2392T>C |