Linked Data
ClinVar Variation Id:
422147
dbSNP Id:
rs776976178
ExAC:
1:114440548 G / A
gnomAD v2:
1-114440548-G-A
gnomAD v3:
1-113897926-G-A
gnomAD v4:
1-113897926-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113897926G>A , CM000663.2:g.113897926G>A | GRCh38 |
| NC_000001.10:g.114440548G>A , CM000663.1:g.114440548G>A | GRCh37 |
| NC_000001.9:g.114242071G>A | NCBI36 |
| NG_031901.1:g.12194C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369564.6:c.991C>T (AP4B1) | ENSP00000358577.2:p.Arg331Ter | |
| ENST00000369567.6:c.712C>T (AP4B1) | ENSP00000358580.1:p.Arg238Ter | |
| ENST00000369571.3:c.1216C>T (AP4B1) | ENSP00000358584.3:p.Arg406Ter | |
| ENST00000432415.6:c.712C>T (AP4B1) | ENSP00000393622.2:p.Arg238Ter | |
| ENST00000460653.2:c.*286C>T (AP4B1) | ENSP00000518881.1:n.*286C>T | |
| ENST00000484201.6:c.587C>T (AP4B1) | ENSP00000518883.1:p.Pro196Leu | |
| ENST00000489499.6:c.*558C>T (AP4B1) | ENSP00000518882.1:n.*558C>T | |
| ENST00000713588.1:c.*327C>T (AP4B1) | ENSP00000518880.1:n.*327C>T | |
| ENST00000713590.1:c.1216C>T (AP4B1) | ENSP00000518886.1:p.Arg406Ter | |
| ENST00000369569.6:c.1216C>T (AP4B1) MANE Select | ENSP00000358582.1:p.Arg406Ter | |
| ENST00000256658.8:c.1216C>T (AP4B1) | ENSP00000256658.4:p.Arg406Ter | |
| ENST00000369567.5:c.712C>T (AP4B1) | ENSP00000358580.1:p.Arg238Ter | |
| ENST00000369569.5:c.1216C>T (AP4B1) | ENSP00000358582.1:p.Arg406Ter | |
| ENST00000462591.1:n.14C>T (AP4B1) | ||
| ENST00000479285.5:n.444C>T (AP4B1) | ||
| ENST00000479801.1:n.50C>T (AP4B1) | ||
| ENST00000484201.5:n.778C>T (AP4B1) | ||
| NM_001253852.1:c.1216C>T (AP4B1) | NP_001240781.1:p.Arg406Ter | |
| NM_001253852.2:c.1216C>T (AP4B1) | NP_001240781.1:p.Arg406Ter | |
| NM_001253853.1:c.919C>T (AP4B1) | NP_001240782.1:p.Arg307Ter | |
| NM_001253853.2:c.919C>T (AP4B1) | NP_001240782.1:p.Arg307Ter | |
| NM_001308312.1:c.712C>T (AP4B1) | NP_001295241.1:p.Arg238Ter | |
| NM_006594.3:c.1216C>T (AP4B1) | NP_006585.2:p.Arg406Ter | |
| NM_006594.4:c.1216C>T (AP4B1) | NP_006585.2:p.Arg406Ter | |
| NR_037864.1:n.305G>A (AP4B1-AS1) | ||
| NR_125965.1:n.473G>A (AP4B1-AS1) | ||
| XM_005270381.2:c.1198+792C>T (AP4B1) | XP_005270438.1:n.1198+792C>T | |
| XM_011540523.1:c.991C>T (AP4B1) | XP_011538825.1:p.Arg331Ter | |
| XM_011540524.1:c.991C>T (AP4B1) | XP_011538826.1:p.Arg331Ter | |
| XM_011540525.1:c.937C>T (AP4B1) | XP_011538827.1:p.Arg313Ter | |
| XM_011540527.1:c.598C>T (AP4B1) | XP_011538829.1:p.Arg200Ter | |
| XM_011540528.1:c.241C>T (AP4B1) | XP_011538830.1:p.Arg81Ter | |
| XR_246227.1:n.1398C>T (AP4B1) | ||
| XM_011540523.3:c.991C>T (AP4B1) | XP_011538825.1:p.Arg331Ter | |
| XM_011540525.3:c.937C>T (AP4B1) | XP_011538827.1:p.Arg313Ter | |
| XM_017000089.2:c.1198+792C>T (AP4B1) | XP_016855578.1:n.1198+792C>T | |
| XM_017000090.1:c.712C>T (AP4B1) | XP_016855579.1:p.Arg238Ter | |
| XM_017000091.2:c.919+792C>T (AP4B1) | XP_016855580.1:n.919+792C>T | |
| XM_017000092.2:c.241C>T (AP4B1) | XP_016855581.1:p.Arg81Ter | |
| XM_024452422.1:c.937C>T (AP4B1) | XP_024308190.1:p.Arg313Ter | |
| XM_024452423.1:c.1198+792C>T (AP4B1) | XP_024308191.1:n.1198+792C>T | |
| XM_024452435.1:c.973+792C>T (AP4B1) | XP_024308203.1:n.973+792C>T | |
| XM_024452441.1:c.694+792C>T (AP4B1) | XP_024308209.1:n.694+792C>T | |
| XR_001736928.2:n.1646C>T (AP4B1) | ||
| XR_001736930.2:n.1790C>T (AP4B1) | ||
| XR_002958805.1:n.1418C>T (AP4B1) | ||
| XR_002958806.1:n.1687C>T (AP4B1) | ||
| XR_002958807.1:n.1526C>T (AP4B1) | ||
| NM_001253852.3:c.1216C>T (AP4B1) MANE Select | NP_001240781.1:p.Arg406Ter | |
| NM_001253853.3:c.919C>T (AP4B1) | NP_001240782.1:p.Arg307Ter | |
| NM_001308312.2:c.712C>T (AP4B1) | NP_001295241.1:p.Arg238Ter | |
| NM_006594.5:c.1216C>T (AP4B1) | NP_006585.2:p.Arg406Ter |