Linked Data
dbSNP Id:
rs2299587
gnomAD v2:
8-17800769-T-G
gnomAD v3:
8-17943260-T-G
gnomAD v4:
8-17943260-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.17943260T>G , CM000670.2:g.17943260T>G | GRCh38 |
| NC_000008.10:g.17800769T>G , CM000670.1:g.17800769T>G | GRCh37 |
| NC_000008.9:g.17845049T>G | NCBI36 |
| NG_027690.1:g.25404T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000522275.6:c.783+3399T>G | ENSP00000429054.2:n.783+3399T>G | |
| ENST00000325083.13:c.783+3399T>G MANE Select | ENSP00000327077.8:n.783+3399T>G | |
| ENST00000325083.12:c.783+3399T>G | ENSP00000327077.8:n.783+3399T>G | |
| ENST00000327578.9:c.783+3399T>G | ENSP00000328332.9:n.783+3399T>G | |
| ENST00000517730.5:c.900+3102T>G | ENSP00000428131.1:n.900+3102T>G | |
| ENST00000518537.5:c.900+3102T>G | ENSP00000428123.1:n.900+3102T>G | |
| ENST00000518930.1:n.222-3926T>G | ||
| ENST00000519253.5:c.783+3399T>G | ENSP00000431099.1:n.783+3399T>G | |
| ENST00000523055.5:c.783+3399T>G | ENSP00000429941.1:n.783+3399T>G | |
| ENST00000524226.5:c.783+3399T>G | ENSP00000430521.1:n.783+3399T>G | |
| NM_001315507.1:c.783+3399T>G | NP_001302436.1:n.783+3399T>G | |
| NM_001315508.1:c.783+3399T>G | NP_001302437.1:n.783+3399T>G | |
| NM_006197.3:c.783+3399T>G | NP_006188.3:n.783+3399T>G | |
| XM_006716336.2:c.1089+1425T>G | XP_006716399.1:n.1089+1425T>G | |
| XM_006716340.2:c.1089+1425T>G | XP_006716403.1:n.1089+1425T>G | |
| XM_006716343.2:c.1089+1425T>G | XP_006716406.1:n.1089+1425T>G | |
| XM_006716344.2:c.1089+1425T>G | XP_006716407.1:n.1089+1425T>G | |
| XM_006716346.2:c.1089+1425T>G | XP_006716409.1:n.1089+1425T>G | |
| XM_006716347.2:c.1089+1425T>G | XP_006716410.1:n.1089+1425T>G | |
| XM_006716348.2:c.1089+1425T>G | XP_006716411.1:n.1089+1425T>G | |
| XM_006716349.2:c.783+3399T>G | XP_006716412.1:n.783+3399T>G | |
| XM_011544528.1:c.1089+1425T>G | XP_011542830.1:n.1089+1425T>G | |
| XM_011544529.1:c.1089+1425T>G | XP_011542831.1:n.1089+1425T>G | |
| XM_011544530.1:c.1089+1425T>G | XP_011542832.1:n.1089+1425T>G | |
| XM_011544531.1:c.1089+1425T>G | XP_011542833.1:n.1089+1425T>G | |
| XM_011544532.1:c.1089+1425T>G | XP_011542834.1:n.1089+1425T>G | |
| XM_011544533.1:c.1089+1425T>G | XP_011542835.1:n.1089+1425T>G | |
| XM_011544534.1:c.1089+1425T>G | XP_011542836.1:n.1089+1425T>G | |
| XM_011544535.1:c.1089+1425T>G | XP_011542837.1:n.1089+1425T>G | |
| XM_011544536.1:c.1089+1425T>G | XP_011542838.1:n.1089+1425T>G | |
| XM_011544537.1:c.1089+1425T>G | XP_011542839.1:n.1089+1425T>G | |
| XM_011544538.1:c.1089+1425T>G | XP_011542840.1:n.1089+1425T>G | |
| XM_011544539.1:c.900+3102T>G | XP_011542841.1:n.900+3102T>G | |
| XM_011544540.1:c.900+3102T>G | XP_011542842.1:n.900+3102T>G | |
| XM_011544541.1:c.783+3399T>G | XP_011542843.1:n.783+3399T>G | |
| XM_011544542.1:c.783+3399T>G | XP_011542844.1:n.783+3399T>G | |
| XM_011544543.1:c.1089+1425T>G | XP_011542845.1:n.1089+1425T>G | |
| XR_949413.1:n.1270+1425T>G | ||
| NM_001352632.1:c.900+3102T>G | NP_001339561.1:n.900+3102T>G | |
| NM_001352633.1:c.900+3102T>G | NP_001339562.1:n.900+3102T>G | |
| NM_001352634.1:c.783+3399T>G | NP_001339563.1:n.783+3399T>G | |
| NM_001352635.1:c.783+3399T>G | NP_001339564.1:n.783+3399T>G | |
| NM_001352636.1:c.900+3102T>G | NP_001339565.1:n.900+3102T>G | |
| NM_001352637.1:c.900+3102T>G | NP_001339566.1:n.900+3102T>G | |
| NM_001352638.1:c.900+3102T>G | NP_001339567.1:n.900+3102T>G | |
| NM_001352639.1:c.783+3399T>G | NP_001339568.1:n.783+3399T>G | |
| NM_001352640.1:c.783+3399T>G | NP_001339569.1:n.783+3399T>G | |
| NM_001352641.1:c.783+3399T>G | NP_001339570.1:n.783+3399T>G | |
| NM_001352642.1:c.783+3399T>G | NP_001339571.1:n.783+3399T>G | |
| NM_001352643.1:c.900+3102T>G | NP_001339572.1:n.900+3102T>G | |
| NM_001352644.1:c.783+3399T>G | NP_001339573.1:n.783+3399T>G | |
| NM_001352645.1:c.783+3399T>G | NP_001339574.1:n.783+3399T>G | |
| NM_001352646.1:c.783+3399T>G | NP_001339575.1:n.783+3399T>G | |
| NM_001352647.1:c.783+3399T>G | NP_001339576.1:n.783+3399T>G | |
| NM_001352648.1:c.783+3399T>G | NP_001339577.1:n.783+3399T>G | |
| NM_001352649.1:c.783+3399T>G | NP_001339578.1:n.783+3399T>G | |
| NM_001352650.1:c.900+3102T>G | NP_001339579.1:n.900+3102T>G | |
| NM_001352651.1:c.900+3102T>G | NP_001339580.1:n.900+3102T>G | |
| NM_001352652.1:c.783+3399T>G | NP_001339581.1:n.783+3399T>G | |
| NM_001352653.1:c.783+3399T>G | NP_001339582.1:n.783+3399T>G | |
| NM_001352654.1:c.783+3399T>G | NP_001339583.1:n.783+3399T>G | |
| NM_001352655.1:c.783+3399T>G | NP_001339584.1:n.783+3399T>G | |
| NM_001352656.1:c.783+3399T>G | NP_001339585.1:n.783+3399T>G | |
| NM_001352657.1:c.783+3399T>G | NP_001339586.1:n.783+3399T>G | |
| NM_001352658.1:c.783+3399T>G | NP_001339587.1:n.783+3399T>G | |
| NM_001352659.1:c.900+3102T>G | NP_001339588.1:n.900+3102T>G | |
| NM_001352660.1:c.900+3102T>G | NP_001339589.1:n.900+3102T>G | |
| NR_148032.1:n.1205+3399T>G | ||
| XM_006716336.3:c.1089+1425T>G | XP_006716399.1:n.1089+1425T>G | |
| XM_006716340.3:c.1089+1425T>G | XP_006716403.1:n.1089+1425T>G | |
| XM_011544528.2:c.1089+1425T>G | XP_011542830.1:n.1089+1425T>G | |
| XM_011544529.2:c.1089+1425T>G | XP_011542831.1:n.1089+1425T>G | |
| XM_011544530.2:c.1089+1425T>G | XP_011542832.1:n.1089+1425T>G | |
| XM_011544532.2:c.1089+1425T>G | XP_011542834.1:n.1089+1425T>G | |
| XM_011544534.2:c.1089+1425T>G | XP_011542836.1:n.1089+1425T>G | |
| XM_017013472.1:c.900+3102T>G | XP_016868961.1:n.900+3102T>G | |
| XM_017013473.1:c.900+3102T>G | XP_016868962.1:n.900+3102T>G | |
| XM_017013478.1:c.900+3102T>G | XP_016868967.1:n.900+3102T>G | |
| XM_017013480.1:c.783+3399T>G | XP_016868969.1:n.783+3399T>G | |
| XM_017013481.1:c.783+3399T>G | XP_016868970.1:n.783+3399T>G | |
| XM_017013486.1:c.900+3102T>G | XP_016868975.1:n.900+3102T>G | |
| XM_017013489.1:c.900+3102T>G | XP_016868978.1:n.900+3102T>G | |
| XM_017013490.2:c.900+3102T>G | XP_016868979.1:n.900+3102T>G | |
| XM_017013491.1:c.783+3399T>G | XP_016868980.1:n.783+3399T>G | |
| XM_017013493.1:c.783+3399T>G | XP_016868982.1:n.783+3399T>G | |
| XM_017013496.2:c.783+3399T>G | XP_016868985.1:n.783+3399T>G | |
| XM_017013501.1:c.783+3399T>G | XP_016868990.1:n.783+3399T>G | |
| XM_024447167.1:c.1089+1425T>G | XP_024302935.1:n.1089+1425T>G | |
| XM_024447168.1:c.900+3102T>G | XP_024302936.1:n.900+3102T>G | |
| XM_024447169.1:c.783+3399T>G | XP_024302937.1:n.783+3399T>G | |
| XM_024447170.1:c.783+3399T>G | XP_024302938.1:n.783+3399T>G | |
| XM_024447171.1:c.900+3102T>G | XP_024302939.1:n.900+3102T>G | |
| NM_001315507.2:c.783+3399T>G | NP_001302436.2:n.783+3399T>G | |
| NM_001352632.2:c.900+3102T>G | NP_001339561.2:n.900+3102T>G | |
| NM_001352633.2:c.900+3102T>G | NP_001339562.2:n.900+3102T>G | |
| NM_001352634.2:c.783+3399T>G | NP_001339563.2:n.783+3399T>G | |
| NM_001352635.2:c.783+3399T>G | NP_001339564.2:n.783+3399T>G | |
| NM_001352636.2:c.900+3102T>G | NP_001339565.2:n.900+3102T>G | |
| NM_001352637.2:c.900+3102T>G | NP_001339566.2:n.900+3102T>G | |
| NM_001352638.2:c.900+3102T>G | NP_001339567.2:n.900+3102T>G | |
| NM_001352639.2:c.783+3399T>G | NP_001339568.2:n.783+3399T>G | |
| NM_001352640.2:c.783+3399T>G | NP_001339569.2:n.783+3399T>G | |
| NM_001352641.2:c.783+3399T>G | NP_001339570.2:n.783+3399T>G | |
| NM_001352642.2:c.783+3399T>G | NP_001339571.2:n.783+3399T>G | |
| NM_001352643.2:c.900+3102T>G | NP_001339572.2:n.900+3102T>G | |
| NM_001352644.2:c.783+3399T>G | NP_001339573.2:n.783+3399T>G | |
| NM_001352645.2:c.783+3399T>G | NP_001339574.2:n.783+3399T>G | |
| NM_001352646.2:c.783+3399T>G | NP_001339575.2:n.783+3399T>G | |
| NM_001352647.2:c.783+3399T>G | NP_001339576.2:n.783+3399T>G | |
| NM_001352648.2:c.783+3399T>G | NP_001339577.2:n.783+3399T>G | |
| NM_001352649.2:c.783+3399T>G | NP_001339578.2:n.783+3399T>G | |
| NM_001352650.2:c.900+3102T>G | NP_001339579.2:n.900+3102T>G | |
| NM_001352651.2:c.900+3102T>G | NP_001339580.2:n.900+3102T>G | |
| NM_001352652.2:c.783+3399T>G | NP_001339581.2:n.783+3399T>G | |
| NM_001352653.2:c.783+3399T>G | NP_001339582.2:n.783+3399T>G | |
| NM_001352654.2:c.783+3399T>G | NP_001339583.2:n.783+3399T>G | |
| NM_001352655.2:c.783+3399T>G | NP_001339584.2:n.783+3399T>G | |
| NM_001352656.2:c.783+3399T>G | NP_001339585.2:n.783+3399T>G | |
| NM_001352657.2:c.783+3399T>G | NP_001339586.2:n.783+3399T>G | |
| NM_001352658.2:c.783+3399T>G | NP_001339587.2:n.783+3399T>G | |
| NM_006197.4:c.783+3399T>G MANE Select | NP_006188.4:n.783+3399T>G | |
| NR_148032.2:n.1074+3399T>G | ||
| NM_001315508.2:c.783+3399T>G | NP_001302437.2:n.783+3399T>G | |
| NM_001352659.2:c.900+3102T>G | NP_001339588.2:n.900+3102T>G | |
| NM_001352660.2:c.900+3102T>G | NP_001339589.2:n.900+3102T>G |