Linked Data
ClinVar Variation Id:
539527
dbSNP Id:
rs374894037
ExAC:
1:114441361 G / A
gnomAD v2:
1-114441361-G-A
gnomAD v3:
1-113898739-G-A
gnomAD v4:
1-113898739-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113898739G>A , CM000663.2:g.113898739G>A | GRCh38 |
| NC_000001.10:g.114441361G>A , CM000663.1:g.114441361G>A | GRCh37 |
| NC_000001.9:g.114242884G>A | NCBI36 |
| NG_031901.1:g.11381C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369564.6:c.952C>T (AP4B1) | ENSP00000358577.2:p.Arg318Ter | |
| ENST00000369567.6:c.673C>T (AP4B1) | ENSP00000358580.1:p.Arg225Ter | |
| ENST00000369571.3:c.1177C>T (AP4B1) | ENSP00000358584.3:p.Arg393Ter | |
| ENST00000432415.6:c.673C>T (AP4B1) | ENSP00000393622.2:p.Arg225Ter | |
| ENST00000460653.2:c.*247C>T (AP4B1) | ENSP00000518881.1:n.*247C>T | |
| ENST00000484201.6:c.548C>T (AP4B1) | ENSP00000518883.1:p.Ser183Leu | |
| ENST00000489499.6:c.*519C>T (AP4B1) | ENSP00000518882.1:n.*519C>T | |
| ENST00000713588.1:c.*288C>T (AP4B1) | ENSP00000518880.1:n.*288C>T | |
| ENST00000713590.1:c.1177C>T (AP4B1) | ENSP00000518886.1:p.Arg393Ter | |
| ENST00000369569.6:c.1177C>T (AP4B1) MANE Select | ENSP00000358582.1:p.Arg393Ter | |
| ENST00000256658.8:c.1177C>T (AP4B1) | ENSP00000256658.4:p.Arg393Ter | |
| ENST00000369567.5:c.673C>T (AP4B1) | ENSP00000358580.1:p.Arg225Ter | |
| ENST00000369569.5:c.1177C>T (AP4B1) | ENSP00000358582.1:p.Arg393Ter | |
| ENST00000479285.5:n.405C>T (AP4B1) | ||
| ENST00000484201.5:n.739C>T (AP4B1) | ||
| NM_001253852.1:c.1177C>T (AP4B1) | NP_001240781.1:p.Arg393Ter | |
| NM_001253852.2:c.1177C>T (AP4B1) | NP_001240781.1:p.Arg393Ter | |
| NM_001253853.1:c.880C>T (AP4B1) | NP_001240782.1:p.Arg294Ter | |
| NM_001253853.2:c.880C>T (AP4B1) | NP_001240782.1:p.Arg294Ter | |
| NM_001308312.1:c.673C>T (AP4B1) | NP_001295241.1:p.Arg225Ter | |
| NM_006594.3:c.1177C>T (AP4B1) | NP_006585.2:p.Arg393Ter | |
| NM_006594.4:c.1177C>T (AP4B1) | NP_006585.2:p.Arg393Ter | |
| NR_037864.1:n.368+750G>A (AP4B1-AS1) | ||
| NR_125965.1:n.536+750G>A (AP4B1-AS1) | ||
| XM_005270381.2:c.1177C>T (AP4B1) | XP_005270438.1:p.Arg393Ter | |
| XM_005270382.3:c.1177C>T (AP4B1) | XP_005270439.1:p.Arg393Ter | |
| XM_011540523.1:c.952C>T (AP4B1) | XP_011538825.1:p.Arg318Ter | |
| XM_011540524.1:c.952C>T (AP4B1) | XP_011538826.1:p.Arg318Ter | |
| XM_011540525.1:c.898C>T (AP4B1) | XP_011538827.1:p.Arg300Ter | |
| XM_011540527.1:c.559C>T (AP4B1) | XP_011538829.1:p.Arg187Ter | |
| XM_011540528.1:c.202C>T (AP4B1) | XP_011538830.1:p.Arg68Ter | |
| XR_246227.1:n.1359C>T (AP4B1) | ||
| XR_246228.2:n.1587C>T (AP4B1) | ||
| XM_011540523.3:c.952C>T (AP4B1) | XP_011538825.1:p.Arg318Ter | |
| XM_011540525.3:c.898C>T (AP4B1) | XP_011538827.1:p.Arg300Ter | |
| XM_017000089.2:c.1177C>T (AP4B1) | XP_016855578.1:p.Arg393Ter | |
| XM_017000090.1:c.673C>T (AP4B1) | XP_016855579.1:p.Arg225Ter | |
| XM_017000091.2:c.898C>T (AP4B1) | XP_016855580.1:p.Arg300Ter | |
| XM_017000092.2:c.202C>T (AP4B1) | XP_016855581.1:p.Arg68Ter | |
| XM_017000093.2:c.1177C>T (AP4B1) | XP_016855582.1:p.Arg393Ter | |
| XM_024452422.1:c.898C>T (AP4B1) | XP_024308190.1:p.Arg300Ter | |
| XM_024452423.1:c.1177C>T (AP4B1) | XP_024308191.1:p.Arg393Ter | |
| XM_024452435.1:c.952C>T (AP4B1) | XP_024308203.1:p.Arg318Ter | |
| XM_024452441.1:c.673C>T (AP4B1) | XP_024308209.1:p.Arg225Ter | |
| XR_001736928.2:n.1607C>T (AP4B1) | ||
| XR_001736930.2:n.1648C>T (AP4B1) | ||
| XR_002958805.1:n.1379C>T (AP4B1) | ||
| XR_002958806.1:n.1648C>T (AP4B1) | ||
| XR_002958807.1:n.1487C>T (AP4B1) | ||
| NM_001253852.3:c.1177C>T (AP4B1) MANE Select | NP_001240781.1:p.Arg393Ter | |
| NM_001253853.3:c.880C>T (AP4B1) | NP_001240782.1:p.Arg294Ter | |
| NM_001308312.2:c.673C>T (AP4B1) | NP_001295241.1:p.Arg225Ter | |
| NM_006594.5:c.1177C>T (AP4B1) | NP_006585.2:p.Arg393Ter |