Linked Data
ClinVar Variation Id:
285346
dbSNP Id:
rs145939245
ExAC:
7:99705181 G / A
gnomAD v2:
7-99705181-G-A
gnomAD v3:
7-100107558-G-A
gnomAD v4:
7-100107558-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100107558G>A , CM000669.2:g.100107558G>A | GRCh38 |
| NC_000007.13:g.99705181G>A , CM000669.1:g.99705181G>A | GRCh37 |
| NC_000007.12:g.99543117G>A | NCBI36 |
| NG_016312.1:g.11052G>A | |
| NG_029454.1:g.17301C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495154.2:n.2297G>A (AP4M1) | ||
| ENST00000713591.1:c.*676G>A (AP4M1) | ENSP00000518888.1:n.*676G>A | |
| ENST00000440225.6:c.1548C>T (TAF6) | ENSP00000410012.2:p.Thr516= | |
| ENST00000451699.6:c.1548C>T (TAF6) | ENSP00000406315.2:p.Thr516= | |
| ENST00000452438.7:c.1665C>T (TAF6) | ENSP00000412346.3:p.Thr555= | |
| ENST00000460673.3:c.1722C>T (TAF6) | ENSP00000427710.3:p.Thr574= | |
| ENST00000472509.6:c.1722C>T (TAF6) | ENSP00000419760.2:p.Thr574= | |
| ENST00000487115.2:n.1277C>T (TAF6) | ||
| ENST00000487288.2:n.2214C>T (TAF6) | ||
| ENST00000493322.6:c.1524C>T (TAF6) | ENSP00000419555.2:p.Thr508= | |
| ENST00000523306.6:c.1524C>T (TAF6) | ENSP00000428639.2:p.Thr508= | |
| ENST00000684938.1:c.*1313C>T (TAF6) | ENSP00000509829.1:n.*1313C>T | |
| ENST00000684951.1:n.2602C>T (TAF6) | ||
| ENST00000685054.1:n.2186C>T (TAF6) | ||
| ENST00000685258.1:n.2795C>T (TAF6) | ||
| ENST00000685280.1:c.1722C>T (TAF6) | ENSP00000510209.1:p.Thr574= | |
| ENST00000685713.1:c.*814C>T (TAF6) | ENSP00000509921.1:n.*814C>T | |
| ENST00000686096.1:c.*1313C>T (TAF6) | ENSP00000510627.1:n.*1313C>T | |
| ENST00000686141.1:c.*914C>T (TAF6) | ENSP00000509002.1:n.*914C>T | |
| ENST00000686172.1:c.1692C>T (TAF6) | ENSP00000510809.1:p.Thr564= | |
| ENST00000686580.1:c.1722C>T (TAF6) | ENSP00000510270.1:p.Thr574= | |
| ENST00000686777.1:c.1722C>T (TAF6) | ENSP00000510166.1:p.Thr574= | |
| ENST00000687137.1:c.1722C>T (TAF6) | ENSP00000508432.1:p.Thr574= | |
| ENST00000687151.1:c.1692C>T (TAF6) | ENSP00000508852.1:p.Thr564= | |
| ENST00000687216.1:c.1665C>T (TAF6) | ENSP00000509789.1:p.Thr555= | |
| ENST00000687410.1:c.1722C>T (TAF6) | ENSP00000509158.1:p.Thr574= | |
| ENST00000687447.1:c.1722C>T (TAF6) | ENSP00000510217.1:p.Thr574= | |
| ENST00000687672.1:c.1692C>T (TAF6) | ENSP00000509741.1:p.Thr564= | |
| ENST00000687768.1:n.2249C>T (TAF6) | ||
| ENST00000687969.1:c.1722C>T (TAF6) | ENSP00000508679.1:p.Thr574= | |
| ENST00000688086.1:c.1665C>T (TAF6) | ENSP00000510349.1:p.Thr555= | |
| ENST00000688091.1:c.*1313C>T (TAF6) | ENSP00000510079.1:n.*1313C>T | |
| ENST00000688197.1:n.2266C>T (TAF6) | ||
| ENST00000688343.1:c.1722C>T (TAF6) | ENSP00000508691.1:p.Thr574= | |
| ENST00000688498.1:c.1722C>T (TAF6) | ENSP00000510409.1:p.Thr574= | |
| ENST00000688640.1:c.1722C>T (TAF6) | ENSP00000509783.1:p.Thr574= | |
| ENST00000688962.1:n.2811C>T (TAF6) | ||
| ENST00000689052.1:n.2425C>T (TAF6) | ||
| ENST00000689284.1:c.1665C>T (TAF6) | ENSP00000509292.1:p.Thr555= | |
| ENST00000689347.1:n.3079C>T (TAF6) | ||
| ENST00000689536.1:n.2384C>T (TAF6) | ||
| ENST00000689684.1:c.*1313C>T (TAF6) | ENSP00000508474.1:n.*1313C>T | |
| ENST00000689754.1:c.1722C>T (TAF6) | ENSP00000509866.1:p.Thr574= | |
| ENST00000689866.1:c.*1313C>T (TAF6) | ENSP00000509889.1:n.*1313C>T | |
| ENST00000690206.1:c.1635C>T (TAF6) | ENSP00000508601.1:p.Thr545= | |
| ENST00000690291.1:n.2468C>T (TAF6) | ||
| ENST00000690335.1:n.2933C>T (TAF6) | ||
| ENST00000690367.1:c.1692C>T (TAF6) | ENSP00000509821.1:p.Thr564= | |
| ENST00000690602.1:c.*1313C>T (TAF6) | ENSP00000509383.1:n.*1313C>T | |
| ENST00000690962.1:c.1695C>T (TAF6) | ENSP00000509249.1:p.Thr565= | |
| ENST00000691010.1:c.1692C>T (TAF6) | ENSP00000509320.1:p.Thr564= | |
| ENST00000691370.1:c.1722C>T (TAF6) | ENSP00000509500.1:p.Thr574= | |
| ENST00000691413.1:c.1665C>T (TAF6) | ENSP00000509680.1:p.Thr555= | |
| ENST00000691534.1:c.*1439C>T (TAF6) | ENSP00000510612.1:n.*1439C>T | |
| ENST00000691681.1:c.1722C>T (TAF6) | ENSP00000509494.1:p.Thr574= | |
| ENST00000692029.1:c.*1439C>T (TAF6) | ENSP00000510260.1:n.*1439C>T | |
| ENST00000692175.1:n.2560C>T (TAF6) | ||
| ENST00000692408.1:c.1692C>T (TAF6) | ENSP00000508788.1:p.Thr564= | |
| ENST00000692466.1:c.1722C>T (TAF6) | ENSP00000509041.1:p.Thr574= | |
| ENST00000692927.1:c.1722C>T (TAF6) | ENSP00000509335.1:p.Thr574= | |
| ENST00000693225.1:c.1665C>T (TAF6) | ENSP00000510019.1:p.Thr555= | |
| ENST00000693256.1:n.2181C>T (TAF6) | ||
| ENST00000693374.1:n.2056C>T (TAF6) | ||
| ENST00000359593.9:c.*676G>A (AP4M1) MANE Select | ENSP00000352603.4:n.*676G>A | |
| ENST00000453269.7:c.1722C>T (TAF6) MANE Select | ENSP00000389575.2:p.Thr574= | |
| ENST00000344095.8:c.1722C>T (TAF6) | ENSP00000344537.4:p.Thr574= | |
| ENST00000416938.5:c.1927G>A (AP4M1) | ||
| ENST00000421755.5:c.*30+646G>A (AP4M1) | ENSP00000412185.1:n.*30+646G>A | |
| ENST00000421980.5:c.*1313C>T (TAF6) | ENSP00000413614.1:n.*1313C>T | |
| ENST00000437822.6:c.1833C>T (TAF6) | ENSP00000399982.2:p.Thr611= | |
| ENST00000450807.5:c.393+1044G>A (AP4M1) | ENSP00000391585.1:n.393+1044G>A | |
| ENST00000452041.5:c.1722C>T (TAF6) | ENSP00000416396.1:p.Thr574= | |
| ENST00000453269.6:c.1722C>T (TAF6) | ENSP00000389575.2:p.Thr574= | |
| ENST00000472509.5:c.1893C>T (TAF6) | ENSP00000419760.1:p.Thr631= | |
| NM_001190415.1:c.1833C>T (TAF6) | NP_001177344.1:p.Thr611= | |
| NM_005641.3:c.1722C>T (TAF6) | NP_005632.1:p.Thr574= | |
| NM_139315.2:c.1722C>T (TAF6) | NP_647476.1:p.Thr574= | |
| NR_033792.1:n.1825C>T (TAF6) | ||
| XM_006716100.1:c.1722C>T (TAF6) | XP_006716163.1:p.Thr574= | |
| XM_006716101.1:c.1692C>T (TAF6) | XP_006716164.1:p.Thr564= | |
| XM_006716102.1:c.1692C>T (TAF6) | XP_006716165.1:p.Thr564= | |
| XM_011516542.1:c.1692C>T (TAF6) | XP_011514844.1:p.Thr564= | |
| XM_011516543.1:c.1692C>T (TAF6) | XP_011514845.1:p.Thr564= | |
| NM_001364998.1:c.1722C>T (TAF6) | NP_001351927.1:p.Thr574= | |
| NM_001364999.1:c.1722C>T (TAF6) | NP_001351928.1:p.Thr574= | |
| NM_001365000.1:c.1692C>T (TAF6) | NP_001351929.1:p.Thr564= | |
| NM_001365001.1:c.1692C>T (TAF6) | NP_001351930.1:p.Thr564= | |
| NM_001365002.1:c.1692C>T (TAF6) | NP_001351931.1:p.Thr564= | |
| NM_001365003.1:c.1692C>T (TAF6) | NP_001351932.1:p.Thr564= | |
| NM_001365004.1:c.1860C>T (TAF6) | NP_001351933.1:p.Thr620= | |
| XM_011516543.3:c.1692C>T (TAF6) | XP_011514845.1:p.Thr564= | |
| XM_024446896.1:c.1722C>T (TAF6) | XP_024302664.1:p.Thr574= | |
| XM_024446899.1:c.1869C>T (TAF6) | XP_024302667.1:p.Thr623= | |
| XM_024446900.1:c.1722C>T (TAF6) | XP_024302668.1:p.Thr574= | |
| NM_139315.3:c.1722C>T (TAF6) MANE Select | NP_647476.1:p.Thr574= | |
| NM_001190415.2:c.1833C>T (TAF6) | NP_001177344.1:p.Thr611= | |
| NM_004722.4:c.*676G>A (AP4M1) MANE Select | NP_004713.2:n.*676G>A | |
| NM_005641.4:c.1722C>T (TAF6) | NP_005632.1:p.Thr574= | |
| NR_033792.2:n.1811C>T (TAF6) | ||
| NM_001363671.2:c.*676G>A (AP4M1) | NP_001350600.1:n.*676G>A |