Linked Data
ClinVar Variation Id:
157718
dbSNP Id:
rs1217401
ExAC:
1:114438951 A / G
gnomAD v2:
1-114438951-A-G
gnomAD v3:
1-113896329-A-G
gnomAD v4:
1-113896329-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113896329A>G , CM000663.2:g.113896329A>G | GRCh38 |
| NC_000001.10:g.114438951A>G , CM000663.1:g.114438951A>G | GRCh37 |
| NC_000001.9:g.114240474A>G | NCBI36 |
| NG_031901.1:g.13791T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369564.6:c.1214T>C (AP4B1) | ENSP00000358577.2:p.Leu405Ser | |
| ENST00000369567.6:c.935T>C (AP4B1) | ENSP00000358580.1:p.Leu312Ser | |
| ENST00000369571.3:c.1439T>C (AP4B1) | ENSP00000358584.3:p.Leu480Ser | |
| ENST00000432415.6:c.935T>C (AP4B1) | ENSP00000393622.2:p.Leu312Ser | |
| ENST00000460653.2:c.*509T>C (AP4B1) | ENSP00000518881.1:n.*509T>C | |
| ENST00000484201.6:c.*189T>C (AP4B1) | ENSP00000518883.1:n.*189T>C | |
| ENST00000489499.6:c.*781T>C (AP4B1) | ENSP00000518882.1:n.*781T>C | |
| ENST00000713588.1:c.*550T>C (AP4B1) | ENSP00000518880.1:n.*550T>C | |
| ENST00000713590.1:c.1439T>C (AP4B1) | ENSP00000518886.1:p.Leu480Ser | |
| ENST00000369569.6:c.1439T>C (AP4B1) MANE Select | ENSP00000358582.1:p.Leu480Ser | |
| ENST00000256658.8:c.1439T>C (AP4B1) | ENSP00000256658.4:p.Leu480Ser | |
| ENST00000369567.5:c.935T>C (AP4B1) | ENSP00000358580.1:p.Leu312Ser | |
| ENST00000369569.5:c.1439T>C (AP4B1) | ENSP00000358582.1:p.Leu480Ser | |
| ENST00000462591.1:n.1611T>C (AP4B1) | ||
| ENST00000479285.5:n.667T>C (AP4B1) | ||
| ENST00000479801.1:n.273T>C (AP4B1) | ||
| NM_001253852.1:c.1439T>C (AP4B1) | NP_001240781.1:p.Leu480Ser | |
| NM_001253852.2:c.1439T>C (AP4B1) | NP_001240781.1:p.Leu480Ser | |
| NM_001253853.1:c.1142T>C (AP4B1) | NP_001240782.1:p.Leu381Ser | |
| NM_001253853.2:c.1142T>C (AP4B1) | NP_001240782.1:p.Leu381Ser | |
| NM_001308312.1:c.935T>C (AP4B1) | NP_001295241.1:p.Leu312Ser | |
| NM_006594.3:c.1439T>C (AP4B1) | NP_006585.2:p.Leu480Ser | |
| NM_006594.4:c.1439T>C (AP4B1) | NP_006585.2:p.Leu480Ser | |
| NR_037864.1:n.247-1539A>G (AP4B1-AS1) | ||
| NR_125965.1:n.415-1539A>G (AP4B1-AS1) | ||
| XM_005270381.2:c.1199-291T>C (AP4B1) | XP_005270438.1:n.1199-291T>C | |
| XM_011540523.1:c.1214T>C (AP4B1) | XP_011538825.1:p.Leu405Ser | |
| XM_011540524.1:c.1214T>C (AP4B1) | XP_011538826.1:p.Leu405Ser | |
| XM_011540525.1:c.1160T>C (AP4B1) | XP_011538827.1:p.Leu387Ser | |
| XM_011540527.1:c.821T>C (AP4B1) | XP_011538829.1:p.Leu274Ser | |
| XM_011540528.1:c.464T>C (AP4B1) | XP_011538830.1:p.Leu155Ser | |
| XR_246227.1:n.1485-291T>C (AP4B1) | ||
| XM_011540523.3:c.1214T>C (AP4B1) | XP_011538825.1:p.Leu405Ser | |
| XM_011540525.3:c.1160T>C (AP4B1) | XP_011538827.1:p.Leu387Ser | |
| XM_017000089.2:c.1199-291T>C (AP4B1) | XP_016855578.1:n.1199-291T>C | |
| XM_017000090.1:c.935T>C (AP4B1) | XP_016855579.1:p.Leu312Ser | |
| XM_017000091.2:c.920-291T>C (AP4B1) | XP_016855580.1:n.920-291T>C | |
| XM_017000092.2:c.464T>C (AP4B1) | XP_016855581.1:p.Leu155Ser | |
| XM_024452422.1:c.1160T>C (AP4B1) | XP_024308190.1:p.Leu387Ser | |
| XM_024452423.1:c.1199-291T>C (AP4B1) | XP_024308191.1:n.1199-291T>C | |
| XM_024452435.1:c.974-291T>C (AP4B1) | XP_024308203.1:n.974-291T>C | |
| XM_024452441.1:c.695-291T>C (AP4B1) | XP_024308209.1:n.695-291T>C | |
| XR_001736928.2:n.1869T>C (AP4B1) | ||
| XR_001736930.2:n.2013T>C (AP4B1) | ||
| XR_002958805.1:n.1505-291T>C (AP4B1) | ||
| XR_002958806.1:n.1910T>C (AP4B1) | ||
| XR_002958807.1:n.1749T>C (AP4B1) | ||
| NM_001253852.3:c.1439T>C (AP4B1) MANE Select | NP_001240781.1:p.Leu480Ser | |
| NM_001253853.3:c.1142T>C (AP4B1) | NP_001240782.1:p.Leu381Ser | |
| NM_001308312.2:c.935T>C (AP4B1) | NP_001295241.1:p.Leu312Ser | |
| NM_006594.5:c.1439T>C (AP4B1) | NP_006585.2:p.Leu480Ser |