gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241291207T>A , CM000663.2:g.241291207T>A | GRCh38 |
| NC_000001.10:g.241454507T>A , CM000663.1:g.241454507T>A | GRCh37 |
| NC_000001.9:g.239521130T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685354.1:n.604+64492A>T | ||
| ENST00000685936.1:c.-117+24357A>T | ENSP00000510372.1:n.-117+24357A>T | |
| ENST00000686340.1:c.78+64492A>T | ENSP00000508697.1:n.78+64492A>T | |
| ENST00000686423.1:n.604+64492A>T | ||
| ENST00000686465.1:c.-1+64492A>T | ENSP00000508545.1:n.-1+64492A>T | |
| ENST00000686908.1:c.78+64492A>T | ENSP00000510420.1:n.78+64492A>T | |
| ENST00000687018.1:c.78+64492A>T | ENSP00000509943.1:n.78+64492A>T | |
| ENST00000687040.1:c.78+64492A>T | ENSP00000509260.1:n.78+64492A>T | |
| ENST00000687448.1:c.-190+63370A>T | ENSP00000510187.1:n.-190+63370A>T | |
| ENST00000687977.1:n.604+64492A>T | ||
| ENST00000688028.1:n.604+64492A>T | ||
| ENST00000688545.1:c.78+64492A>T | ENSP00000509302.1:n.78+64492A>T | |
| ENST00000688633.1:c.78+64492A>T | ENSP00000509822.1:n.78+64492A>T | |
| ENST00000688703.1:c.-118-29586A>T | ENSP00000510116.1:n.-118-29586A>T | |
| ENST00000688737.1:c.78+64492A>T | ENSP00000510154.1:n.78+64492A>T | |
| ENST00000688863.1:c.78+64492A>T | ENSP00000509381.1:n.78+64492A>T | |
| ENST00000689115.1:c.78+64492A>T | ENSP00000510458.1:n.78+64492A>T | |
| ENST00000689595.1:n.604+64492A>T | ||
| ENST00000689602.1:c.-117+64492A>T | ENSP00000510103.1:n.-117+64492A>T | |
| ENST00000689640.1:c.78+64492A>T | ENSP00000510326.1:n.78+64492A>T | |
| ENST00000690019.1:c.78+64492A>T | ENSP00000510735.1:n.78+64492A>T | |
| ENST00000690356.1:c.78+64492A>T | ENSP00000509411.1:n.78+64492A>T | |
| ENST00000690539.1:c.78+64492A>T | ENSP00000510322.1:n.78+64492A>T | |
| ENST00000690614.1:c.-463+64492A>T | ENSP00000509835.1:n.-463+64492A>T | |
| ENST00000691271.1:n.604+64492A>T | ||
| ENST00000691485.1:c.-345+64492A>T | ENSP00000509318.1:n.-345+64492A>T | |
| ENST00000691597.1:n.604+64492A>T | ||
| ENST00000691979.1:c.78+64492A>T | ENSP00000510676.1:n.78+64492A>T | |
| ENST00000691989.1:c.78+64492A>T | ENSP00000508919.1:n.78+64492A>T | |
| ENST00000692410.1:c.-1+63370A>T | ENSP00000509046.1:n.-1+63370A>T | |
| ENST00000692860.1:n.604+64492A>T | ||
| ENST00000693043.1:c.78+64492A>T | ENSP00000508520.1:n.78+64492A>T | |
| ENST00000440928.6:c.78+64492A>T MANE Select | ENSP00000404399.2:n.78+64492A>T | |
| ENST00000348120.6:c.78+64492A>T | ENSP00000341242.2:n.78+64492A>T | |
| ENST00000366563.5:c.78+64492A>T | ENSP00000355521.1:n.78+64492A>T | |
| ENST00000366564.5:c.78+64492A>T | ENSP00000355522.1:n.78+64492A>T | |
| ENST00000366565.5:c.78+64492A>T | ENSP00000355523.1:n.78+64492A>T | |
| NM_001282773.1:c.78+64492A>T | NP_001269702.1:n.78+64492A>T | |
| NM_001282775.1:c.78+64492A>T | NP_001269704.1:n.78+64492A>T | |
| NM_001282778.1:c.78+64492A>T | NP_001269707.1:n.78+64492A>T | |
| NM_002924.5:c.78+64492A>T | NP_002915.3:n.78+64492A>T | |
| XM_005273218.2:c.78+64492A>T | XP_005273275.1:n.78+64492A>T | |
| NM_001282773.2:c.78+64492A>T | NP_001269702.1:n.78+64492A>T | |
| NM_001282775.2:c.78+64492A>T | NP_001269704.1:n.78+64492A>T | |
| NM_001282778.2:c.78+64492A>T | NP_001269707.1:n.78+64492A>T | |
| NM_001350113.1:c.-1+63370A>T | NP_001337042.1:n.-1+63370A>T | |
| NM_001350114.1:c.-1+24357A>T | NP_001337043.1:n.-1+24357A>T | |
| NM_001350115.1:c.-1+63370A>T | NP_001337044.1:n.-1+63370A>T | |
| NM_001350116.1:c.-1+24357A>T | NP_001337045.1:n.-1+24357A>T | |
| NM_001364886.1:c.78+64492A>T MANE Select | NP_001351815.1:n.78+64492A>T | |
| NM_002924.6:c.78+64492A>T | NP_002915.3:n.78+64492A>T | |
| XM_017002001.2:c.78+64492A>T | XP_016857490.1:n.78+64492A>T | |
| XM_017002002.2:c.-1+63370A>T | XP_016857491.1:n.-1+63370A>T | |
| XM_017002003.2:c.78+64492A>T | XP_016857492.1:n.78+64492A>T | |
| XM_017002004.2:c.78+64492A>T | XP_016857493.1:n.78+64492A>T | |
| XM_017002005.2:c.-1+63370A>T | XP_016857494.1:n.-1+63370A>T | |
| NM_001374806.1:c.78+64492A>T | NP_001361735.1:n.78+64492A>T | |
| NM_001374807.1:c.78+64492A>T | NP_001361736.1:n.78+64492A>T | |
| NM_001374808.1:c.-147+64492A>T | NP_001361737.1:n.-147+64492A>T | |
| NM_001374809.1:c.-212+64492A>T | NP_001361738.1:n.-212+64492A>T | |
| NM_001374810.1:c.-212+64492A>T | NP_001361739.1:n.-212+64492A>T | |
| NM_001374811.1:c.78+64492A>T | NP_001361740.1:n.78+64492A>T | |
| NM_001374812.1:c.78+64492A>T | NP_001361741.1:n.78+64492A>T | |
| NM_001374813.1:c.-212+64492A>T | NP_001361742.1:n.-212+64492A>T | |
| NM_001374814.1:c.78+64492A>T | NP_001361743.1:n.78+64492A>T | |
| NM_001374815.1:c.78+64492A>T | NP_001361744.1:n.78+64492A>T | |
| NM_001374816.1:c.78+64492A>T | NP_001361745.1:n.78+64492A>T | |
| NM_001350113.2:c.-1+63370A>T | NP_001337042.1:n.-1+63370A>T | |
| NM_001350114.2:c.-1+24357A>T | NP_001337043.1:n.-1+24357A>T | |
| NM_001350115.2:c.-1+63370A>T | NP_001337044.1:n.-1+63370A>T |