dbSNP Id:
rs770140305

ExAC:
21:27264013 C / CA

gnomAD v2:
21-27264013-C-CA

gnomAD v4:
21-25891701-C-CA

HGVS | Genome Assembly |
---|---|

NC_000021.9:g.25891702dup , CM000683.2:g.25891702dup | GRCh38 |

NC_000021.8:g.27264014dup , CM000683.1:g.27264014dup | GRCh37 |

NC_000021.7:g.26185885dup | NCBI36 |

NG_007376.1:g.284119dup | |

NG_007376.2:g.284427dup |

HGVS | Amino-acid Change | |
---|---|---|

ENST00000707132.1:n.2178+20dup | ||

ENST00000707133.1:n.608+20dup | ||

ENST00000707134.1:n.877+20dup | ||

ENST00000346798.8:c.2211+20dup MANE Select | ENSP00000284981.4:n.2211+20dup | |

ENST00000346798.7:c.2211+20dup | ENSP00000284981.4:n.2211+20dup | |

ENST00000348990.9:c.1986+20dup | ENSP00000345463.5:n.1986+20dup | |

ENST00000354192.7:c.1818+20dup | ENSP00000346129.3:n.1818+20dup | |

ENST00000357903.7:c.2154+20dup | ENSP00000350578.3:n.2154+20dup | |

ENST00000358918.7:c.2157+20dup | ENSP00000351796.3:n.2157+20dup | |

ENST00000359726.7:c.1881+20dup | ENSP00000352760.4:n.1881+20dup | |

ENST00000439274.6:c.2043+20dup | ENSP00000398879.2:n.2043+20dup | |

ENST00000440126.7:c.2139+20dup | ENSP00000387483.2:n.2139+20dup | |

ENST00000464867.1:n.558+20dup | ||

NM_000484.3:c.2211+20dup | NP_000475.1:n.2211+20dup | |

NM_001136016.3:c.2139+20dup | NP_001129488.1:n.2139+20dup | |

NM_001136129.2:c.1818+20dup | NP_001129601.1:n.1818+20dup | |

NM_001136130.2:c.2043+20dup | NP_001129602.1:n.2043+20dup | |

NM_001136131.2:c.1881+20dup | NP_001129603.1:n.1881+20dup | |

NM_001204301.1:c.2157+20dup | NP_001191230.1:n.2157+20dup | |

NM_001204302.1:c.2100+20dup | NP_001191231.1:n.2100+20dup | |

NM_001204303.1:c.1932+20dup | NP_001191232.1:n.1932+20dup | |

NM_201413.2:c.2154+20dup | NP_958816.1:n.2154+20dup | |

NM_201414.2:c.1986+20dup | NP_958817.1:n.1986+20dup | |

NM_000484.4:c.2211+20dup MANE Select | NP_000475.1:n.2211+20dup | |

NM_001136129.3:c.1818+20dup | NP_001129601.1:n.1818+20dup | |

NM_001136130.3:c.2043+20dup | NP_001129602.1:n.2043+20dup | |

NM_001204301.2:c.2157+20dup | NP_001191230.1:n.2157+20dup | |

NM_001204302.2:c.2100+20dup | NP_001191231.1:n.2100+20dup | |

NM_001204303.2:c.1932+20dup | NP_001191232.1:n.1932+20dup | |

NM_201413.3:c.2154+20dup | NP_958816.1:n.2154+20dup | |

NM_201414.3:c.1986+20dup | NP_958817.1:n.1986+20dup | |

NM_001136131.3:c.1881+20dup | NP_001129603.1:n.1881+20dup | |

NM_001385253.1:c.2043+20dup | NP_001372182.1:n.2043+20dup |