Linked Data
dbSNP Id:
rs1328940761
gnomAD v2:
1-114438887-G-A
gnomAD v3:
1-113896265-G-A
gnomAD v4:
1-113896265-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113896265G>A , CM000663.2:g.113896265G>A | GRCh38 |
| NC_000001.10:g.114438887G>A , CM000663.1:g.114438887G>A | GRCh37 |
| NC_000001.9:g.114240410G>A | NCBI36 |
| NG_031901.1:g.13855C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369564.6:c.1278C>T (AP4B1) | ENSP00000358577.2:p.Tyr426= | |
| ENST00000369567.6:c.999C>T (AP4B1) | ENSP00000358580.1:p.Tyr333= | |
| ENST00000369571.3:c.1503C>T (AP4B1) | ENSP00000358584.3:p.Tyr501= | |
| ENST00000432415.6:c.999C>T (AP4B1) | ENSP00000393622.2:p.Tyr333= | |
| ENST00000460653.2:c.*573C>T (AP4B1) | ENSP00000518881.1:n.*573C>T | |
| ENST00000484201.6:c.*253C>T (AP4B1) | ENSP00000518883.1:n.*253C>T | |
| ENST00000489499.6:c.*845C>T (AP4B1) | ENSP00000518882.1:n.*845C>T | |
| ENST00000713588.1:c.*614C>T (AP4B1) | ENSP00000518880.1:n.*614C>T | |
| ENST00000713590.1:c.1503C>T (AP4B1) | ENSP00000518886.1:p.Tyr501= | |
| ENST00000369569.6:c.1503C>T (AP4B1) MANE Select | ENSP00000358582.1:p.Tyr501= | |
| ENST00000256658.8:c.1503C>T (AP4B1) | ENSP00000256658.4:p.Tyr501= | |
| ENST00000369567.5:c.999C>T (AP4B1) | ENSP00000358580.1:p.Tyr333= | |
| ENST00000369569.5:c.1503C>T (AP4B1) | ENSP00000358582.1:p.Tyr501= | |
| ENST00000462591.1:n.1675C>T (AP4B1) | ||
| ENST00000479285.5:n.731C>T (AP4B1) | ||
| ENST00000479801.1:n.337C>T (AP4B1) | ||
| NM_001253852.1:c.1503C>T (AP4B1) | NP_001240781.1:p.Tyr501= | |
| NM_001253852.2:c.1503C>T (AP4B1) | NP_001240781.1:p.Tyr501= | |
| NM_001253853.1:c.1206C>T (AP4B1) | NP_001240782.1:p.Tyr402= | |
| NM_001253853.2:c.1206C>T (AP4B1) | NP_001240782.1:p.Tyr402= | |
| NM_001308312.1:c.999C>T (AP4B1) | NP_001295241.1:p.Tyr333= | |
| NM_006594.3:c.1503C>T (AP4B1) | NP_006585.2:p.Tyr501= | |
| NM_006594.4:c.1503C>T (AP4B1) | NP_006585.2:p.Tyr501= | |
| NR_037864.1:n.247-1603G>A (AP4B1-AS1) | ||
| NR_125965.1:n.415-1603G>A (AP4B1-AS1) | ||
| XM_005270381.2:c.1199-227C>T (AP4B1) | XP_005270438.1:n.1199-227C>T | |
| XM_011540523.1:c.1278C>T (AP4B1) | XP_011538825.1:p.Tyr426= | |
| XM_011540524.1:c.1278C>T (AP4B1) | XP_011538826.1:p.Tyr426= | |
| XM_011540525.1:c.1224C>T (AP4B1) | XP_011538827.1:p.Tyr408= | |
| XM_011540527.1:c.885C>T (AP4B1) | XP_011538829.1:p.Tyr295= | |
| XM_011540528.1:c.528C>T (AP4B1) | XP_011538830.1:p.Tyr176= | |
| XR_246227.1:n.1485-227C>T (AP4B1) | ||
| XM_011540523.3:c.1278C>T (AP4B1) | XP_011538825.1:p.Tyr426= | |
| XM_011540525.3:c.1224C>T (AP4B1) | XP_011538827.1:p.Tyr408= | |
| XM_017000089.2:c.1199-227C>T (AP4B1) | XP_016855578.1:n.1199-227C>T | |
| XM_017000090.1:c.999C>T (AP4B1) | XP_016855579.1:p.Tyr333= | |
| XM_017000091.2:c.920-227C>T (AP4B1) | XP_016855580.1:n.920-227C>T | |
| XM_017000092.2:c.528C>T (AP4B1) | XP_016855581.1:p.Tyr176= | |
| XM_024452422.1:c.1224C>T (AP4B1) | XP_024308190.1:p.Tyr408= | |
| XM_024452423.1:c.1199-227C>T (AP4B1) | XP_024308191.1:n.1199-227C>T | |
| XM_024452435.1:c.974-227C>T (AP4B1) | XP_024308203.1:n.974-227C>T | |
| XM_024452441.1:c.695-227C>T (AP4B1) | XP_024308209.1:n.695-227C>T | |
| XR_001736928.2:n.1933C>T (AP4B1) | ||
| XR_001736930.2:n.2077C>T (AP4B1) | ||
| XR_002958805.1:n.1505-227C>T (AP4B1) | ||
| XR_002958806.1:n.1974C>T (AP4B1) | ||
| XR_002958807.1:n.1813C>T (AP4B1) | ||
| NM_001253852.3:c.1503C>T (AP4B1) MANE Select | NP_001240781.1:p.Tyr501= | |
| NM_001253853.3:c.1206C>T (AP4B1) | NP_001240782.1:p.Tyr402= | |
| NM_001308312.2:c.999C>T (AP4B1) | NP_001295241.1:p.Tyr333= | |
| NM_006594.5:c.1503C>T (AP4B1) | NP_006585.2:p.Tyr501= |