Linked Data
ClinVar Variation Id:
286925
dbSNP Id:
rs368996545
ExAC:
X:31164483 T / C
gnomAD v2:
X-31164483-T-C
gnomAD v3:
X-31146366-T-C
gnomAD v4:
X-31146366-T-C
MyVariant Identifiers:
chrX:g.31164483T>C (hg19)
chrX:g.31164483_31164486delinsCAGA (hg19)
chrX:g.31146366T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31146366T>C , CM000685.2:g.31146366T>C | GRCh38 |
| NC_000023.10:g.31164483T>C , CM000685.1:g.31164483T>C | GRCh37 |
| NC_000023.9:g.31074404T>C | NCBI36 |
| NG_012232.1:g.2198244A>G , LRG_199:g.2198244A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.5653A>G | ENSP00000350765.3:p.Thr1885Ala | |
| ENST00000680162.2:c.1537A>G | ENSP00000506634.2:p.Thr513Ala | |
| ENST00000680768.2:c.1555-12A>G | ENSP00000506359.2:n.1555-12A>G | |
| ENST00000681989.1:n.1644A>G | ||
| ENST00000682207.1:n.966A>G | ||
| ENST00000682238.1:c.3136A>G | ENSP00000508124.1:p.Thr1046Ala | |
| ENST00000682322.1:c.1537A>G | ENSP00000507690.1:p.Thr513Ala | |
| ENST00000682600.1:c.1603A>G | ENSP00000507640.1:p.Thr535Ala | |
| ENST00000682746.1:n.236A>G | ||
| ENST00000682769.1:n.1438A>G | ||
| ENST00000683503.1:n.2661A>G | ||
| ENST00000683509.1:n.2324A>G | ||
| ENST00000683675.1:n.1945A>G | ||
| ENST00000683709.1:n.2325A>G | ||
| ENST00000683995.1:n.991A>G | ||
| ENST00000684072.1:n.1075A>G | ||
| ENST00000684103.1:n.1254A>G | ||
| ENST00000684130.1:c.3427A>G | ENSP00000508037.1:p.Thr1143Ala | |
| ENST00000684247.1:n.318A>G | ||
| ENST00000684342.1:n.1890A>G | ||
| ENST00000684350.1:n.2661A>G | ||
| ENST00000343523.7:c.2701A>G | ENSP00000340057.4:p.Thr901Ala | |
| ENST00000357033.9:c.10846A>G MANE Select | ENSP00000354923.3:p.Thr3616Ala | |
| ENST00000619831.5:c.6814A>G | ENSP00000479270.2:p.Thr2272Ala | |
| ENST00000620040.5:c.3335+952A>G | ENSP00000478150.2:n.3335+952A>G | |
| ENST00000679437.1:c.508A>G | ENSP00000506629.1:p.Thr170Ala | |
| ENST00000679641.1:c.*518A>G | ENSP00000506135.1:n.*518A>G | |
| ENST00000679706.1:c.473A>G | ||
| ENST00000679850.1:n.5857A>G | ||
| ENST00000680162.1:c.1519A>G | ENSP00000506634.1:p.Thr507Ala | |
| ENST00000680355.1:c.1312A>G | ENSP00000506257.1:p.Thr438Ala | |
| ENST00000680557.1:c.604-12172A>G | ENSP00000505164.1:n.604-12172A>G | |
| ENST00000680701.1:n.621A>G | ||
| ENST00000680768.1:c.1546A>G | ENSP00000506359.1:p.Thr516Ala | |
| ENST00000680961.1:c.*809A>G | ENSP00000506386.1:n.*809A>G | |
| ENST00000681026.1:c.508A>G | ENSP00000506689.1:p.Thr170Ala | |
| ENST00000681153.1:c.1603A>G | ENSP00000505124.1:p.Thr535Ala | |
| ENST00000343523.6:c.2659A>G | ENSP00000340057.3:p.Thr887Ala | |
| ENST00000357033.8:c.10846A>G | ENSP00000354923.3:p.Thr3616Ala | |
| ENST00000358062.6:c.3895A>G | ENSP00000350765.2:p.Thr1299Ala | |
| ENST00000359836.5:c.3427A>G | ENSP00000352894.1:p.Thr1143Ala | |
| ENST00000361471.8:c.1603A>G | ENSP00000354464.4:p.Thr535Ala | |
| ENST00000378677.6:c.10834A>G | ENSP00000367948.2:p.Thr3612Ala | |
| ENST00000378680.6:c.1312A>G | ENSP00000367951.2:p.Thr438Ala | |
| ENST00000378702.8:c.1642A>G | ENSP00000367974.4:p.Thr548Ala | |
| ENST00000378707.7:c.3466A>G | ENSP00000367979.3:p.Thr1156Ala | |
| ENST00000378723.7:c.1642A>G | ENSP00000367997.3:p.Thr548Ala | |
| ENST00000474231.5:c.3466A>G | ENSP00000417123.1:p.Thr1156Ala | |
| ENST00000481143.2:n.114+23077A>G | ||
| ENST00000541735.5:c.3136A>G | ENSP00000444119.1:p.Thr1046Ala | |
| ENST00000619831.4:c.10831A>G | ENSP00000479270.1:p.Thr3611Ala | |
| ENST00000620040.4:c.10843A>G | ENSP00000478150.1:p.Thr3615Ala | |
| NM_000109.3:c.10822A>G | NP_000100.2:p.Thr3608Ala | |
| NM_004006.2:c.10846A>G , LRG_199t1:c.10846A>G | NP_003997.1:p.Thr3616Ala | |
| NM_004009.3:c.10834A>G | NP_004000.1:p.Thr3612Ala | |
| NM_004010.3:c.10477A>G | NP_004001.1:p.Thr3493Ala | |
| NM_004011.3:c.6823A>G | NP_004002.2:p.Thr2275Ala | |
| NM_004012.3:c.6814A>G | NP_004003.1:p.Thr2272Ala | |
| NM_004013.2:c.3466A>G | NP_004004.1:p.Thr1156Ala | |
| NM_004014.2:c.2659A>G | NP_004005.1:p.Thr887Ala | |
| NM_004015.2:c.1642A>G | NP_004006.1:p.Thr548Ala | |
| NM_004016.2:c.1642A>G | NP_004007.1:p.Thr548Ala | |
| NM_004017.2:c.1603A>G | NP_004008.1:p.Thr535Ala | |
| NM_004018.2:c.1603A>G | NP_004009.1:p.Thr535Ala | |
| NM_004020.3:c.3136A>G | NP_004011.2:p.Thr1046Ala | |
| NM_004021.2:c.3466A>G | NP_004012.1:p.Thr1156Ala | |
| NM_004022.2:c.3427A>G | NP_004013.1:p.Thr1143Ala | |
| NM_004023.2:c.3136A>G | NP_004014.1:p.Thr1046Ala | |
| XM_006724468.2:c.10846A>G | XP_006724531.1:p.Thr3616Ala | |
| XM_006724469.2:c.10822A>G | XP_006724532.1:p.Thr3608Ala | |
| XM_006724470.2:c.10807A>G | XP_006724533.1:p.Thr3603Ala | |
| XM_006724471.2:c.10741A>G | XP_006724534.1:p.Thr3581Ala | |
| XM_006724472.2:c.10717A>G | XP_006724535.1:p.Thr3573Ala | |
| XM_006724473.2:c.10708A>G | XP_006724536.1:p.Thr3570Ala | |
| XM_006724474.2:c.10516A>G | XP_006724537.1:p.Thr3506Ala | |
| XM_006724475.2:c.10516A>G | XP_006724538.1:p.Thr3506Ala | |
| XM_011545467.1:c.10723A>G | XP_011543769.1:p.Thr3575Ala | |
| XM_006724469.3:c.10822A>G | XP_006724532.1:p.Thr3608Ala | |
| XM_006724470.3:c.10807A>G | XP_006724533.1:p.Thr3603Ala | |
| XM_006724474.3:c.10516A>G | XP_006724537.1:p.Thr3506Ala | |
| XM_017029328.1:c.10807A>G | XP_016884817.1:p.Thr3603Ala | |
| XM_017029331.1:c.5020A>G | XP_016884820.1:p.Thr1674Ala | |
| NM_000109.4:c.10822A>G | NP_000100.3:p.Thr3608Ala | |
| NM_004006.3:c.10846A>G MANE Select | NP_003997.2:p.Thr3616Ala | |
| NM_004011.4:c.6823A>G | NP_004002.3:p.Thr2275Ala | |
| NM_004012.4:c.6814A>G | NP_004003.2:p.Thr2272Ala | |
| NM_004015.3:c.1642A>G | NP_004006.1:p.Thr548Ala | |
| NM_004016.3:c.1642A>G | NP_004007.1:p.Thr548Ala | |
| NM_004017.3:c.1603A>G | NP_004008.1:p.Thr535Ala | |
| NM_004018.3:c.1603A>G | NP_004009.1:p.Thr535Ala | |
| NM_004021.3:c.3466A>G | NP_004012.2:p.Thr1156Ala | |
| NM_004023.3:c.3136A>G | NP_004014.2:p.Thr1046Ala | |
| NM_004013.3:c.3466A>G | NP_004004.2:p.Thr1156Ala | |
| NM_004014.3:c.2659A>G | NP_004005.2:p.Thr887Ala | |
| NM_004020.4:c.3136A>G | NP_004011.3:p.Thr1046Ala | |
| NM_004022.3:c.3427A>G | NP_004013.2:p.Thr1143Ala |