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:
rs12772243
gnomAD v2:
10-97295589-A-G
gnomAD v3:
10-95535832-A-G
gnomAD v4:
10-95535832-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95535832A>G , CM000672.2:g.95535832A>G | GRCh38 |
| NC_000010.10:g.97295589A>G , CM000672.1:g.97295589A>G | GRCh37 |
| NC_000010.9:g.97285579A>G | NCBI36 |
| NG_034041.1:g.30589T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649575.2:c.-132+25488T>C | ENSP00000497106.2:n.-132+25488T>C | |
| ENST00000649911.2:c.-254+25488T>C | ENSP00000497554.2:n.-254+25488T>C | |
| ENST00000371247.7:c.-132+25488T>C MANE Select | ENSP00000360293.2:n.-132+25488T>C | |
| ENST00000306402.10:c.-132+25488T>C | ENSP00000302556.6:n.-132+25488T>C | |
| ENST00000371227.8:c.-132+25488T>C | ENSP00000360271.3:n.-132+25488T>C | |
| ENST00000371246.6:c.-132+25488T>C | ENSP00000360292.2:n.-132+25488T>C | |
| ENST00000371247.6:c.-132+25488T>C | ENSP00000360293.2:n.-132+25488T>C | |
| ENST00000371249.6:c.-132+25488T>C | ENSP00000360295.2:n.-132+25488T>C | |
| ENST00000474353.6:n.54+25488T>C | ||
| ENST00000607232.5:c.-132+25488T>C | ENSP00000475901.1:n.-132+25488T>C | |
| NM_001290294.1:c.-132+25488T>C | NP_001277223.1:n.-132+25488T>C | |
| NM_001290295.1:c.-132+25488T>C | NP_001277224.1:n.-132+25488T>C | |
| NM_015385.3:c.-132+25488T>C | NP_056200.1:n.-132+25488T>C | |
| NM_024991.2:c.-132+25488T>C | NP_079267.1:n.-132+25488T>C | |
| XM_006717570.1:c.-132+25488T>C | XP_006717633.1:n.-132+25488T>C | |
| XM_006717574.1:c.-132+25488T>C | XP_006717637.1:n.-132+25488T>C | |
| XM_006717581.1:c.-132+25488T>C | XP_006717644.1:n.-132+25488T>C | |
| XM_006717582.1:c.-132+25488T>C | XP_006717645.1:n.-132+25488T>C | |
| XM_006717585.1:c.-132+25488T>C | XP_006717648.1:n.-132+25488T>C | |
| XM_006717586.1:c.-132+25488T>C | XP_006717649.1:n.-132+25488T>C | |
| XM_006717589.1:c.-132+25488T>C | XP_006717652.1:n.-132+25488T>C | |
| XM_006717590.1:c.-132+25488T>C | XP_006717653.1:n.-132+25488T>C | |
| XM_006717591.1:c.-132+25488T>C | XP_006717654.1:n.-132+25488T>C | |
| XM_006717593.1:c.-132+25488T>C | XP_006717656.1:n.-132+25488T>C | |
| XM_006717594.1:c.-132+25488T>C | XP_006717657.1:n.-132+25488T>C | |
| XM_006717595.1:c.-132+25488T>C | XP_006717658.1:n.-132+25488T>C | |
| XM_011539138.1:c.-132+25488T>C | XP_011537440.1:n.-132+25488T>C | |
| XM_011539139.1:c.-132+25488T>C | XP_011537441.1:n.-132+25488T>C | |
| XM_011539140.1:c.-132+25488T>C | XP_011537442.1:n.-132+25488T>C | |
| XM_011539141.1:c.-132+25488T>C | XP_011537443.1:n.-132+25488T>C | |
| XM_011539142.1:c.-132+25488T>C | XP_011537444.1:n.-132+25488T>C | |
| XM_011539143.1:c.-132+25488T>C | XP_011537445.1:n.-132+25488T>C | |
| XM_011539146.1:c.-132+25488T>C | XP_011537448.1:n.-132+25488T>C | |
| XM_011539147.1:c.-132+25488T>C | XP_011537449.1:n.-132+25488T>C | |
| XM_011539150.1:c.-132+25488T>C | XP_011537452.1:n.-132+25488T>C | |
| XM_011539151.1:c.-132+25488T>C | XP_011537453.1:n.-132+25488T>C | |
| XM_011539152.1:c.-132+25488T>C | XP_011537454.1:n.-132+25488T>C | |
| XM_011539153.1:c.-132+25488T>C | XP_011537455.1:n.-132+25488T>C | |
| XM_011539154.1:c.-132+25488T>C | XP_011537456.1:n.-132+25488T>C | |
| XM_011539155.1:c.-132+25488T>C | XP_011537457.1:n.-132+25488T>C | |
| XM_011539158.1:c.-132+25488T>C | XP_011537460.1:n.-132+25488T>C | |
| XM_011539159.1:c.-132+25488T>C | XP_011537461.1:n.-132+25488T>C | |
| XM_011539160.1:c.-132+25488T>C | XP_011537462.1:n.-132+25488T>C | |
| XM_011539162.1:c.-132+25488T>C | XP_011537464.1:n.-132+25488T>C | |
| XM_011539163.1:c.-132+25488T>C | XP_011537465.1:n.-132+25488T>C | |
| XM_011539164.1:c.-132+25488T>C | XP_011537466.1:n.-132+25488T>C | |
| XM_011539165.1:c.-132+25488T>C | XP_011537467.1:n.-132+25488T>C | |
| XM_011539166.1:c.-132+25488T>C | XP_011537468.1:n.-132+25488T>C | |
| XM_011539167.1:c.-132+25488T>C | XP_011537469.1:n.-132+25488T>C | |
| XM_006717589.2:c.-132+25488T>C | XP_006717652.1:n.-132+25488T>C | |
| XM_011539140.2:c.-132+25488T>C | XP_011537442.1:n.-132+25488T>C | |
| XM_011539150.2:c.-132+25488T>C | XP_011537452.1:n.-132+25488T>C | |
| XM_017015500.2:c.-132+25488T>C | XP_016870989.1:n.-132+25488T>C | |
| XM_017015501.2:c.-132+25488T>C | XP_016870990.1:n.-132+25488T>C | |
| XM_017015502.2:c.-132+25488T>C | XP_016870991.1:n.-132+25488T>C | |
| XM_017015503.2:c.-132+25488T>C | XP_016870992.1:n.-132+25488T>C | |
| XM_017015504.2:c.-132+25488T>C | XP_016870993.1:n.-132+25488T>C | |
| XM_017015505.2:c.-132+25488T>C | XP_016870994.1:n.-132+25488T>C | |
| XM_017015506.2:c.-132+25488T>C | XP_016870995.1:n.-132+25488T>C | |
| XM_017015507.2:c.-132+25488T>C | XP_016870996.1:n.-132+25488T>C | |
| XM_017015508.2:c.-132+25488T>C | XP_016870997.1:n.-132+25488T>C | |
| XM_017015509.1:c.-132+25488T>C | XP_016870998.1:n.-132+25488T>C | |
| XM_017015510.2:c.-132+25488T>C | XP_016870999.1:n.-132+25488T>C | |
| XM_017015511.2:c.-132+25488T>C | XP_016871000.1:n.-132+25488T>C | |
| XM_017015512.1:c.-132+25488T>C | XP_016871001.1:n.-132+25488T>C | |
| XM_017015513.1:c.-132+25488T>C | XP_016871002.1:n.-132+25488T>C | |
| XM_017015514.1:c.-132+25488T>C | XP_016871003.1:n.-132+25488T>C | |
| XM_017015515.2:c.-132+25488T>C | XP_016871004.1:n.-132+25488T>C | |
| XM_017015516.2:c.-132+25488T>C | XP_016871005.1:n.-132+25488T>C | |
| XM_017015517.2:c.-132+25488T>C | XP_016871006.1:n.-132+25488T>C | |
| XM_017015518.1:c.-132+25488T>C | XP_016871007.1:n.-132+25488T>C | |
| XM_017015520.2:c.-132+25488T>C | XP_016871009.1:n.-132+25488T>C | |
| XM_017015521.1:c.-132+25488T>C | XP_016871010.1:n.-132+25488T>C | |
| XM_017015522.2:c.-132+25488T>C | XP_016871011.1:n.-132+25488T>C | |
| XM_017015523.1:c.-132+25488T>C | XP_016871012.1:n.-132+25488T>C | |
| XM_017015524.1:c.-132+25488T>C | XP_016871013.1:n.-132+25488T>C | |
| XM_017015525.1:c.-132+25488T>C | XP_016871014.1:n.-132+25488T>C | |
| XM_017015526.2:c.-132+25488T>C | XP_016871015.1:n.-132+25488T>C | |
| XM_017015527.1:c.-132+25488T>C | XP_016871016.1:n.-132+25488T>C | |
| XM_017015528.2:c.-132+25488T>C | XP_016871017.1:n.-132+25488T>C | |
| XM_017015529.2:c.-132+25488T>C | XP_016871018.1:n.-132+25488T>C | |
| XM_017015530.2:c.-132+25488T>C | XP_016871019.1:n.-132+25488T>C | |
| XM_017015531.1:c.-132+25488T>C | XP_016871020.1:n.-132+25488T>C | |
| XM_017015532.2:c.-132+25488T>C | XP_016871021.1:n.-132+25488T>C | |
| XM_017015533.1:c.-132+25488T>C | XP_016871022.1:n.-132+25488T>C | |
| XM_017015534.2:c.-132+25488T>C | XP_016871023.1:n.-132+25488T>C | |
| XM_017015535.1:c.-132+25488T>C | XP_016871024.1:n.-132+25488T>C | |
| XM_017015536.1:c.-132+25488T>C | XP_016871025.1:n.-132+25488T>C | |
| XM_017015537.2:c.-132+25488T>C | XP_016871026.1:n.-132+25488T>C | |
| XM_017015539.1:c.-132+25488T>C | XP_016871028.1:n.-132+25488T>C | |
| XM_017015540.1:c.-132+25488T>C | XP_016871029.1:n.-132+25488T>C | |
| XM_024447769.1:c.-132+25488T>C | XP_024303537.1:n.-132+25488T>C | |
| XM_024447770.1:c.-132+25488T>C | XP_024303538.1:n.-132+25488T>C | |
| NM_001290294.2:c.-132+25488T>C | NP_001277223.2:n.-132+25488T>C | |
| NM_001290295.2:c.-132+25488T>C | NP_001277224.2:n.-132+25488T>C | |
| NM_001377197.1:c.-132+25488T>C | NP_001364126.1:n.-132+25488T>C | |
| NM_001377198.1:c.-132+25488T>C | NP_001364127.1:n.-132+25488T>C | |
| NM_001377199.1:c.-132+25488T>C | NP_001364128.1:n.-132+25488T>C | |
| NM_001377200.1:c.-132+25488T>C | NP_001364129.1:n.-132+25488T>C | |
| NM_001377201.1:c.-132+25488T>C | NP_001364130.1:n.-132+25488T>C | |
| NM_001377202.1:c.-132+25488T>C | NP_001364131.1:n.-132+25488T>C | |
| NM_001377203.1:c.-132+25488T>C | NP_001364132.1:n.-132+25488T>C | |
| NM_001377204.1:c.-132+25488T>C | NP_001364133.1:n.-132+25488T>C | |
| NM_001377205.1:c.-132+25488T>C | NP_001364134.1:n.-132+25488T>C | |
| NM_001377206.1:c.-132+25488T>C | NP_001364135.1:n.-132+25488T>C | |
| NM_001377207.1:c.-132+25488T>C | NP_001364136.1:n.-132+25488T>C | |
| NM_001377208.1:c.-132+25488T>C | NP_001364137.1:n.-132+25488T>C | |
| NM_001377209.1:c.-132+25488T>C | NP_001364138.1:n.-132+25488T>C | |
| NM_015385.4:c.-132+25488T>C | NP_056200.2:n.-132+25488T>C | |
| NM_024991.3:c.-132+25488T>C | NP_079267.2:n.-132+25488T>C | |
| NM_001034954.3:c.-132+25488T>C MANE Select | NP_001030126.2:n.-132+25488T>C | |
| NM_001034957.3:c.-132+25488T>C | NP_001030129.2:n.-132+25488T>C | |
| NM_001290297.3:c.-132+25488T>C | NP_001277226.2:n.-132+25488T>C | |
| NM_001290298.3:c.-132+25488T>C | NP_001277227.2:n.-132+25488T>C | |
| NM_001384447.1:c.-132+25488T>C | NP_001371376.1:n.-132+25488T>C | |
| NM_001384448.1:c.-132+25488T>C | NP_001371377.1:n.-132+25488T>C | |
| NM_001384449.1:c.-132+25488T>C | NP_001371378.1:n.-132+25488T>C | |
| NM_001384450.1:c.-132+25488T>C | NP_001371379.1:n.-132+25488T>C | |
| NM_001384451.1:c.-132+25488T>C | NP_001371380.1:n.-132+25488T>C | |
| NM_001384452.1:c.-132+25488T>C | NP_001371381.1:n.-132+25488T>C | |
| NM_001384453.1:c.-132+25488T>C | NP_001371382.1:n.-132+25488T>C | |
| NM_001384454.1:c.-254+25488T>C | NP_001371383.1:n.-254+25488T>C | |
| NM_001384455.1:c.-46+25488T>C | NP_001371384.1:n.-46+25488T>C | |
| NM_001384456.1:c.-383+25488T>C | NP_001371385.1:n.-383+25488T>C | |
| NM_001384457.1:c.-254+25488T>C | NP_001371386.1:n.-254+25488T>C | |
| NM_001384458.1:c.-132+25488T>C | NP_001371387.1:n.-132+25488T>C | |
| NM_001384459.1:c.-132+25488T>C | NP_001371388.1:n.-132+25488T>C | |
| NM_001384460.1:c.-132+25488T>C | NP_001371389.1:n.-132+25488T>C | |
| NM_001384461.1:c.-132+25488T>C | NP_001371390.1:n.-132+25488T>C | |
| NM_001384462.1:c.-132+25488T>C | NP_001371391.1:n.-132+25488T>C | |
| NM_001384463.1:c.-254+25488T>C | NP_001371392.1:n.-254+25488T>C | |
| NM_001384464.1:c.-132+25488T>C | NP_001371393.1:n.-132+25488T>C | |
| NM_001384465.1:c.-132+25488T>C | NP_001371394.1:n.-132+25488T>C | |
| NM_006434.4:c.-132+25488T>C | NP_006425.3:n.-132+25488T>C |