Linked Data
ClinVar Variation Id:
3192241
ClinVar RCV Id:
RCV004481179
dbSNP Id:
rs760091218
gnomAD v2:
1-203809499-A-G
gnomAD v3:
1-203840371-A-G
gnomAD v4:
1-203840371-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203840371A>G , CM000663.2:g.203840371A>G | GRCh38 |
| NC_000001.10:g.203809499A>G , CM000663.1:g.203809499A>G | GRCh37 |
| NC_000001.9:g.202076122A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000550078.3:c.*3738A>G (ZBED6) MANE Select | ENSP00000447879.1:n.*3738A>G | |
| ENST00000367210.3:c.1039A>G (ZC3H11A) MANE Select | ENSP00000356179.1:p.Thr347Ala | |
| ENST00000550078.2:c.*3738A>G (ZBED6) | ENSP00000447879.1:n.*3738A>G | |
| ENST00000638800.1:c.*299A>G (ZC3H11A) | ENSP00000491483.1:n.*299A>G | |
| ENST00000639812.1:c.1039A>G (ZC3H11A) | ENSP00000491830.1:p.Thr347Ala | |
| ENST00000640465.1:n.1252A>G (ZC3H11A) | ||
| ENST00000332127.8:c.1039A>G (ZC3H11A) | ENSP00000333253.4:p.Thr347Ala | |
| ENST00000367210.1:c.1039A>G (ZC3H11A) | ENSP00000356179.1:p.Thr347Ala | |
| ENST00000367212.7:c.1039A>G (ZC3H11A) | ENSP00000356181.3:p.Thr347Ala | |
| ENST00000367214.5:c.1039A>G (ZC3H11A) | ENSP00000356183.1:p.Thr347Ala | |
| ENST00000453771.5:c.1039A>G (ZC3H11A) | ENSP00000415072.1:p.Thr347Ala | |
| ENST00000495527.5:c.1039A>G (ZC3H11A) | ENSP00000432602.1:p.Thr347Ala | |
| ENST00000545588.5:c.1039A>G (ZC3H11A) | ENSP00000438527.1:p.Thr347Ala | |
| NM_014827.4:c.1039A>G (ZC3H11A) | NP_055642.3:p.Thr347Ala | |
| XM_005245643.2:c.1039A>G (ZC3H11A) | XP_005245700.1:p.Thr347Ala | |
| XM_005245644.3:c.1039A>G (ZC3H11A) | XP_005245701.1:p.Thr347Ala | |
| XM_005245646.2:c.31A>G (ZC3H11A) | XP_005245703.1:p.Thr11Ala | |
| XM_006711673.2:c.1039A>G (ZC3H11A) | XP_006711736.1:p.Thr347Ala | |
| XM_011510199.1:c.1039A>G (ZC3H11A) | XP_011508501.1:p.Thr347Ala | |
| XM_011510200.1:c.1039A>G (ZC3H11A) | XP_011508502.1:p.Thr347Ala | |
| XM_011510201.1:c.1039A>G (ZC3H11A) | XP_011508503.1:p.Thr347Ala | |
| XM_011510202.1:c.1039A>G (ZC3H11A) | XP_011508504.1:p.Thr347Ala | |
| XM_011510203.1:c.1039A>G (ZC3H11A) | XP_011508505.1:p.Thr347Ala | |
| XM_011510204.1:c.1039A>G (ZC3H11A) | XP_011508506.1:p.Thr347Ala | |
| NM_001319238.1:c.1039A>G (ZC3H11A) | NP_001306167.1:p.Thr347Ala | |
| NM_001319239.1:c.1039A>G (ZC3H11A) | NP_001306168.1:p.Thr347Ala | |
| NM_001350261.1:c.1039A>G (ZC3H11A) | NP_001337190.1:p.Thr347Ala | |
| NM_001350262.1:c.1039A>G (ZC3H11A) | NP_001337191.1:p.Thr347Ala | |
| NM_001350263.1:c.1039A>G (ZC3H11A) | NP_001337192.1:p.Thr347Ala | |
| NM_001350264.1:c.1039A>G (ZC3H11A) | NP_001337193.1:p.Thr347Ala | |
| NM_001350265.1:c.1039A>G (ZC3H11A) | NP_001337194.1:p.Thr347Ala | |
| NM_001350266.1:c.1039A>G (ZC3H11A) | NP_001337195.1:p.Thr347Ala | |
| NM_014827.5:c.1039A>G (ZC3H11A) | NP_055642.3:p.Thr347Ala | |
| XM_011510199.2:c.1039A>G (ZC3H11A) | XP_011508501.1:p.Thr347Ala | |
| XM_011510200.2:c.1039A>G (ZC3H11A) | XP_011508502.1:p.Thr347Ala | |
| XM_017002957.2:c.1039A>G (ZC3H11A) | XP_016858446.1:p.Thr347Ala | |
| XM_017002958.1:c.1039A>G (ZC3H11A) | XP_016858447.1:p.Thr347Ala | |
| XM_017002959.2:c.1039A>G (ZC3H11A) | XP_016858448.1:p.Thr347Ala | |
| XM_017002961.2:c.1039A>G (ZC3H11A) | XP_016858450.1:p.Thr347Ala | |
| NM_001319238.2:c.1039A>G (ZC3H11A) | NP_001306167.1:p.Thr347Ala | |
| NM_001319239.2:c.1039A>G (ZC3H11A) | NP_001306168.1:p.Thr347Ala | |
| NM_001350261.2:c.1039A>G (ZC3H11A) | NP_001337190.1:p.Thr347Ala | |
| NM_001350262.2:c.1039A>G (ZC3H11A) | NP_001337191.1:p.Thr347Ala | |
| NM_001350263.2:c.1039A>G (ZC3H11A) | NP_001337192.1:p.Thr347Ala | |
| NM_001350264.2:c.1039A>G (ZC3H11A) | NP_001337193.1:p.Thr347Ala | |
| NM_001350265.2:c.1039A>G (ZC3H11A) | NP_001337194.1:p.Thr347Ala | |
| NM_001350266.2:c.1039A>G (ZC3H11A) | NP_001337195.1:p.Thr347Ala | |
| NM_001376334.1:c.1039A>G (ZC3H11A) | NP_001363263.1:p.Thr347Ala | |
| NM_001376335.1:c.1039A>G (ZC3H11A) | NP_001363264.1:p.Thr347Ala | |
| NM_001376336.1:c.1039A>G (ZC3H11A) | NP_001363265.1:p.Thr347Ala | |
| NM_001376337.1:c.1039A>G (ZC3H11A) | NP_001363266.1:p.Thr347Ala | |
| NM_001376338.1:c.1039A>G (ZC3H11A) | NP_001363267.1:p.Thr347Ala | |
| NM_001376339.1:c.1039A>G (ZC3H11A) | NP_001363268.1:p.Thr347Ala | |
| NM_001376340.1:c.1039A>G (ZC3H11A) | NP_001363269.1:p.Thr347Ala | |
| NM_001376341.1:c.1039A>G (ZC3H11A) | NP_001363270.1:p.Thr347Ala | |
| NM_001376342.1:c.1039A>G (ZC3H11A) MANE Select | NP_001363271.1:p.Thr347Ala | |
| NM_001376343.1:c.1039A>G (ZC3H11A) | NP_001363272.1:p.Thr347Ala | |
| NM_001376344.1:c.1039A>G (ZC3H11A) | NP_001363273.1:p.Thr347Ala | |
| NM_001376345.1:c.1039A>G (ZC3H11A) | NP_001363274.1:p.Thr347Ala | |
| NM_001376346.1:c.1039A>G (ZC3H11A) | NP_001363275.1:p.Thr347Ala | |
| NM_001376347.1:c.1039A>G (ZC3H11A) | NP_001363276.1:p.Thr347Ala | |
| NM_001376348.1:c.1039A>G (ZC3H11A) | NP_001363277.1:p.Thr347Ala | |
| NM_001376349.1:c.1039A>G (ZC3H11A) | NP_001363278.1:p.Thr347Ala | |
| NM_001376350.1:c.1039A>G (ZC3H11A) | NP_001363279.1:p.Thr347Ala | |
| NM_001376351.1:c.1039A>G (ZC3H11A) | NP_001363280.1:p.Thr347Ala | |
| NM_001376352.1:c.1039A>G (ZC3H11A) | NP_001363281.1:p.Thr347Ala | |
| NM_001376353.1:c.1039A>G (ZC3H11A) | NP_001363282.1:p.Thr347Ala | |
| NM_001376354.1:c.1039A>G (ZC3H11A) | NP_001363283.1:p.Thr347Ala | |
| NM_001376355.1:c.1039A>G (ZC3H11A) | NP_001363284.1:p.Thr347Ala | |
| NM_001376356.1:c.1039A>G (ZC3H11A) | NP_001363285.1:p.Thr347Ala | |
| NM_001376357.1:c.1039A>G (ZC3H11A) | NP_001363286.1:p.Thr347Ala | |
| NM_001376358.1:c.1039A>G (ZC3H11A) | NP_001363287.1:p.Thr347Ala | |
| NM_001376359.1:c.1039A>G (ZC3H11A) | NP_001363288.1:p.Thr347Ala | |
| NM_001376360.1:c.1039A>G (ZC3H11A) | NP_001363289.1:p.Thr347Ala | |
| NM_001376361.1:c.1039A>G (ZC3H11A) | NP_001363290.1:p.Thr347Ala | |
| NM_001376362.1:c.1039A>G (ZC3H11A) | NP_001363291.1:p.Thr347Ala | |
| NM_001376363.1:c.1039A>G (ZC3H11A) | NP_001363292.1:p.Thr347Ala | |
| NM_001376364.1:c.1039A>G (ZC3H11A) | NP_001363293.1:p.Thr347Ala | |
| NM_001376365.1:c.1039A>G (ZC3H11A) | NP_001363294.1:p.Thr347Ala | |
| NM_001376366.1:c.1039A>G (ZC3H11A) | NP_001363295.1:p.Thr347Ala | |
| NM_001376367.1:c.1039A>G (ZC3H11A) | NP_001363296.1:p.Thr347Ala | |
| NM_014827.6:c.1039A>G (ZC3H11A) | NP_055642.3:p.Thr347Ala | |
| NM_001395895.1:c.*3738A>G (ZBED6) MANE Select | NP_001382824.1:n.*3738A>G |