Linked Data
dbSNP Id:
rs9848726
gnomAD v2:
3-100590822-A-T
gnomAD v3:
3-100871978-A-T
gnomAD v4:
3-100871978-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.100871978A>T , CM000665.2:g.100871978A>T | GRCh38 |
| NC_000003.11:g.100590822A>T , CM000665.1:g.100590822A>T | GRCh37 |
| NC_000003.10:g.102073512A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710654.1:c.931+2863T>A | ENSP00000518403.1:n.931+2863T>A | |
| ENST00000284322.10:c.910+2863T>A | ENSP00000284322.6:n.910+2863T>A | |
| ENST00000471714.6:c.910+2863T>A MANE Select | ENSP00000420524.2:n.910+2863T>A | |
| ENST00000486770.7:c.910+2863T>A | ENSP00000419029.3:n.910+2863T>A | |
| ENST00000495063.6:c.910+2863T>A | ENSP00000433993.2:n.910+2863T>A | |
| ENST00000284322.9:c.931+2863T>A | ENSP00000284322.5:n.931+2863T>A | |
| ENST00000471714.5:c.931+2863T>A | ENSP00000420524.1:n.931+2863T>A | |
| ENST00000475896.5:n.976+2863T>A | ||
| ENST00000483129.5:c.257+2863T>A | ||
| ENST00000495063.5:c.931+2863T>A | ENSP00000433993.1:n.931+2863T>A | |
| NM_015429.3:c.931+2863T>A | NP_056244.2:n.931+2863T>A | |
| XM_005247281.2:c.931+2863T>A | XP_005247338.1:n.931+2863T>A | |
| XM_005247282.2:c.931+2863T>A | XP_005247339.1:n.931+2863T>A | |
| XM_005247283.2:c.931+2863T>A | XP_005247340.1:n.931+2863T>A | |
| XM_005247284.2:c.931+2863T>A | XP_005247341.1:n.931+2863T>A | |
| XM_005247285.2:c.931+2863T>A | XP_005247342.1:n.931+2863T>A | |
| XM_005247287.2:c.931+2863T>A | XP_005247344.1:n.931+2863T>A | |
| XM_005247288.2:c.931+2863T>A | XP_005247345.1:n.931+2863T>A | |
| XM_005247289.2:c.931+2863T>A | XP_005247346.1:n.931+2863T>A | |
| XM_005247290.2:c.931+2863T>A | XP_005247347.1:n.931+2863T>A | |
| XM_005247291.2:c.931+2863T>A | XP_005247348.1:n.931+2863T>A | |
| XM_005247293.2:c.931+2863T>A | XP_005247350.1:n.931+2863T>A | |
| XM_005247294.2:c.931+2863T>A | XP_005247351.1:n.931+2863T>A | |
| XM_005247295.2:c.931+2863T>A | XP_005247352.1:n.931+2863T>A | |
| XM_005247296.2:c.931+2863T>A | XP_005247353.1:n.931+2863T>A | |
| XM_005247298.2:c.931+2863T>A | XP_005247355.1:n.931+2863T>A | |
| XM_005247299.2:c.931+2863T>A | XP_005247356.1:n.931+2863T>A | |
| XM_005247300.2:c.931+2863T>A | XP_005247357.1:n.931+2863T>A | |
| XM_005247301.2:c.931+2863T>A | XP_005247358.1:n.931+2863T>A | |
| XM_005247302.2:c.931+2863T>A | XP_005247359.1:n.931+2863T>A | |
| XM_005247303.2:c.931+2863T>A | XP_005247360.1:n.931+2863T>A | |
| XM_005247305.2:c.931+2863T>A | XP_005247362.1:n.931+2863T>A | |
| XM_005247306.2:c.931+2863T>A | XP_005247363.1:n.931+2863T>A | |
| XM_005247309.1:c.37+2863T>A | XP_005247366.1:n.37+2863T>A | |
| XM_006713568.2:c.931+2863T>A | XP_006713631.1:n.931+2863T>A | |
| XM_006713569.2:c.931+2863T>A | XP_006713632.1:n.931+2863T>A | |
| XM_006713570.2:c.931+2863T>A | XP_006713633.1:n.931+2863T>A | |
| XM_006713571.2:c.931+2863T>A | XP_006713634.1:n.931+2863T>A | |
| XM_006713572.2:c.931+2863T>A | XP_006713635.1:n.931+2863T>A | |
| XM_011512639.1:c.931+2863T>A | XP_011510941.1:n.931+2863T>A | |
| XM_011512640.1:c.931+2863T>A | XP_011510942.1:n.931+2863T>A | |
| XM_011512641.1:c.931+2863T>A | XP_011510943.1:n.931+2863T>A | |
| XM_011512642.1:c.931+2863T>A | XP_011510944.1:n.931+2863T>A | |
| XM_011512643.1:c.931+2863T>A | XP_011510945.1:n.931+2863T>A | |
| XM_011512644.1:c.931+2863T>A | XP_011510946.1:n.931+2863T>A | |
| XM_011512645.1:c.931+2863T>A | XP_011510947.1:n.931+2863T>A | |
| XM_011512646.1:c.931+2863T>A | XP_011510948.1:n.931+2863T>A | |
| XM_011512647.1:c.931+2863T>A | XP_011510949.1:n.931+2863T>A | |
| XM_011512648.1:c.931+2863T>A | XP_011510950.1:n.931+2863T>A | |
| XM_011512649.1:c.931+2863T>A | XP_011510951.1:n.931+2863T>A | |
| XM_011512650.1:c.931+2863T>A | XP_011510952.1:n.931+2863T>A | |
| XM_011512651.1:c.931+2863T>A | XP_011510953.1:n.931+2863T>A | |
| XM_011512652.1:c.931+2863T>A | XP_011510954.1:n.931+2863T>A | |
| XM_011512653.1:c.931+2863T>A | XP_011510955.1:n.931+2863T>A | |
| XM_011512654.1:c.931+2863T>A | XP_011510956.1:n.931+2863T>A | |
| XM_011512655.1:c.931+2863T>A | XP_011510957.1:n.931+2863T>A | |
| XM_011512656.1:c.931+2863T>A | XP_011510958.1:n.931+2863T>A | |
| XM_011512657.1:c.931+2863T>A | XP_011510959.1:n.931+2863T>A | |
| XM_011512658.1:c.931+2863T>A | XP_011510960.1:n.931+2863T>A | |
| XM_011512659.1:c.931+2863T>A | XP_011510961.1:n.931+2863T>A | |
| XM_011512660.1:c.931+2863T>A | XP_011510962.1:n.931+2863T>A | |
| NM_001349329.1:c.931+2863T>A | NP_001336258.1:n.931+2863T>A | |
| NM_001349330.1:c.931+2863T>A | NP_001336259.1:n.931+2863T>A | |
| NM_001349331.1:c.931+2863T>A | NP_001336260.1:n.931+2863T>A | |
| NM_001349332.1:c.931+2863T>A | NP_001336261.1:n.931+2863T>A | |
| NM_001365642.1:c.931+2863T>A | NP_001352571.1:n.931+2863T>A | |
| NM_001365643.1:c.931+2863T>A | NP_001352572.1:n.931+2863T>A | |
| XM_005247281.3:c.931+2863T>A | XP_005247338.1:n.931+2863T>A | |
| XM_005247282.3:c.931+2863T>A | XP_005247339.1:n.931+2863T>A | |
| XM_005247283.3:c.931+2863T>A | XP_005247340.1:n.931+2863T>A | |
| XM_005247284.3:c.931+2863T>A | XP_005247341.1:n.931+2863T>A | |
| XM_005247285.3:c.931+2863T>A | XP_005247342.1:n.931+2863T>A | |
| XM_005247287.3:c.931+2863T>A | XP_005247344.1:n.931+2863T>A | |
| XM_005247288.3:c.931+2863T>A | XP_005247345.1:n.931+2863T>A | |
| XM_005247289.3:c.931+2863T>A | XP_005247346.1:n.931+2863T>A | |
| XM_005247290.3:c.931+2863T>A | XP_005247347.1:n.931+2863T>A | |
| XM_005247291.3:c.931+2863T>A | XP_005247348.1:n.931+2863T>A | |
| XM_005247293.3:c.931+2863T>A | XP_005247350.1:n.931+2863T>A | |
| XM_005247294.3:c.931+2863T>A | XP_005247351.1:n.931+2863T>A | |
| XM_005247295.3:c.931+2863T>A | XP_005247352.1:n.931+2863T>A | |
| XM_005247296.3:c.931+2863T>A | XP_005247353.1:n.931+2863T>A | |
| XM_005247298.3:c.931+2863T>A | XP_005247355.1:n.931+2863T>A | |
| XM_005247299.4:c.931+2863T>A | XP_005247356.1:n.931+2863T>A | |
| XM_005247300.3:c.931+2863T>A | XP_005247357.1:n.931+2863T>A | |
| XM_005247301.3:c.931+2863T>A | XP_005247358.1:n.931+2863T>A | |
| XM_005247302.3:c.931+2863T>A | XP_005247359.1:n.931+2863T>A | |
| XM_005247303.3:c.931+2863T>A | XP_005247360.1:n.931+2863T>A | |
| XM_005247305.3:c.931+2863T>A | XP_005247362.1:n.931+2863T>A | |
| XM_005247306.3:c.931+2863T>A | XP_005247363.1:n.931+2863T>A | |
| XM_005247309.2:c.37+2863T>A | XP_005247366.1:n.37+2863T>A | |
| XM_006713569.3:c.931+2863T>A | XP_006713632.1:n.931+2863T>A | |
| XM_006713570.3:c.931+2863T>A | XP_006713633.1:n.931+2863T>A | |
| XM_006713571.3:c.931+2863T>A | XP_006713634.1:n.931+2863T>A | |
| XM_006713572.3:c.931+2863T>A | XP_006713635.1:n.931+2863T>A | |
| XM_011512639.2:c.931+2863T>A | XP_011510941.1:n.931+2863T>A | |
| XM_011512640.2:c.931+2863T>A | XP_011510942.1:n.931+2863T>A | |
| XM_011512641.2:c.931+2863T>A | XP_011510943.1:n.931+2863T>A | |
| XM_011512643.2:c.931+2863T>A | XP_011510945.1:n.931+2863T>A | |
| XM_011512644.2:c.931+2863T>A | XP_011510946.1:n.931+2863T>A | |
| XM_011512645.2:c.931+2863T>A | XP_011510947.1:n.931+2863T>A | |
| XM_011512646.2:c.931+2863T>A | XP_011510948.1:n.931+2863T>A | |
| XM_011512647.2:c.931+2863T>A | XP_011510949.1:n.931+2863T>A | |
| XM_011512648.2:c.931+2863T>A | XP_011510950.1:n.931+2863T>A | |
| XM_011512649.2:c.931+2863T>A | XP_011510951.1:n.931+2863T>A | |
| XM_011512651.2:c.931+2863T>A | XP_011510953.1:n.931+2863T>A | |
| XM_011512653.2:c.931+2863T>A | XP_011510955.1:n.931+2863T>A | |
| XM_011512654.2:c.931+2863T>A | XP_011510956.1:n.931+2863T>A | |
| XM_011512656.2:c.931+2863T>A | XP_011510958.1:n.931+2863T>A | |
| XM_011512657.2:c.931+2863T>A | XP_011510959.1:n.931+2863T>A | |
| XM_011512660.2:c.931+2863T>A | XP_011510962.1:n.931+2863T>A | |
| XM_017006105.2:c.931+2863T>A | XP_016861594.1:n.931+2863T>A | |
| XM_017006106.2:c.931+2863T>A | XP_016861595.1:n.931+2863T>A | |
| XM_017006107.2:c.931+2863T>A | XP_016861596.1:n.931+2863T>A | |
| XM_024453444.1:c.931+2863T>A | XP_024309212.1:n.931+2863T>A | |
| XM_024453445.1:c.931+2863T>A | XP_024309213.1:n.931+2863T>A | |
| NM_001349329.2:c.910+2863T>A | NP_001336258.2:n.910+2863T>A | |
| NM_001349330.2:c.910+2863T>A | NP_001336259.2:n.910+2863T>A | |
| NM_001349331.2:c.910+2863T>A | NP_001336260.2:n.910+2863T>A | |
| NM_001349332.2:c.910+2863T>A | NP_001336261.2:n.910+2863T>A | |
| NM_001365642.2:c.910+2863T>A | NP_001352571.2:n.910+2863T>A | |
| NM_001365643.2:c.910+2863T>A | NP_001352572.2:n.910+2863T>A | |
| NM_001375547.2:c.910+2863T>A MANE Select | NP_001362476.1:n.910+2863T>A | |
| NM_001375549.2:c.910+2863T>A | NP_001362478.1:n.910+2863T>A | |
| NM_001375550.1:c.910+2863T>A | NP_001362479.1:n.910+2863T>A | |
| NM_001377332.1:c.910+2863T>A | NP_001364261.1:n.910+2863T>A | |
| NM_015429.4:c.910+2863T>A | NP_056244.3:n.910+2863T>A |