Linked Data
ClinVar Variation Id:
386852
ClinVar RCV Id:
RCV000425918
RCV000463656
RCV001251671
RCV001821192
RCV001848780
RCV002313102
RCV003912733
dbSNP Id:
rs141417436
ExAC:
1:114442885 A / G
gnomAD v2:
1-114442885-A-G
gnomAD v3:
1-113900263-A-G
gnomAD v4:
1-113900263-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113900263A>G , CM000663.2:g.113900263A>G | GRCh38 |
| NC_000001.10:g.114442885A>G , CM000663.1:g.114442885A>G | GRCh37 |
| NC_000001.9:g.114244408A>G | NCBI36 |
| NG_031901.1:g.9857T>C | |
| NG_057565.1:g.645A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369564.6:c.530T>C (AP4B1) | ENSP00000358577.2:p.Val177Ala | |
| ENST00000369567.6:c.251T>C (AP4B1) | ENSP00000358580.1:p.Val84Ala | |
| ENST00000369571.3:c.755T>C (AP4B1) | ENSP00000358584.3:p.Val252Ala | |
| ENST00000432415.6:c.251T>C (AP4B1) | ENSP00000393622.2:p.Val84Ala | |
| ENST00000460653.2:c.755T>C (AP4B1) | ENSP00000518881.1:p.Val252Ala | |
| ENST00000484201.6:c.523+7T>C (AP4B1) | ENSP00000518883.1:n.523+7T>C | |
| ENST00000489092.6:c.*423T>C (AP4B1) | ENSP00000518884.1:n.*423T>C | |
| ENST00000489499.6:c.*97T>C (AP4B1) | ENSP00000518882.1:n.*97T>C | |
| ENST00000713588.1:c.755T>C (AP4B1) | ENSP00000518880.1:p.Val252Ala | |
| ENST00000713590.1:c.755T>C (AP4B1) | ENSP00000518886.1:p.Val252Ala | |
| ENST00000369569.6:c.755T>C (AP4B1) MANE Select | ENSP00000358582.1:p.Val252Ala | |
| ENST00000256658.8:c.755T>C (AP4B1) | ENSP00000256658.4:p.Val252Ala | |
| ENST00000369564.5:c.530T>C (AP4B1) | ENSP00000358577.1:p.Val177Ala | |
| ENST00000369567.5:c.251T>C (AP4B1) | ENSP00000358580.1:p.Val84Ala | |
| ENST00000369569.5:c.755T>C (AP4B1) | ENSP00000358582.1:p.Val252Ala | |
| ENST00000369571.2:c.755T>C (AP4B1) | ENSP00000358584.2:p.Val252Ala | |
| ENST00000432415.5:c.251T>C (AP4B1) | ENSP00000393622.1:p.Val84Ala | |
| ENST00000484201.5:n.714+7T>C (AP4B1) | ||
| ENST00000489092.5:n.754T>C (AP4B1) | ||
| ENST00000489499.5:n.723T>C (AP4B1) | ||
| NM_001253852.1:c.755T>C (AP4B1) | NP_001240781.1:p.Val252Ala | |
| NM_001253852.2:c.755T>C (AP4B1) | NP_001240781.1:p.Val252Ala | |
| NM_001253853.1:c.458T>C (AP4B1) | NP_001240782.1:p.Val153Ala | |
| NM_001253853.2:c.458T>C (AP4B1) | NP_001240782.1:p.Val153Ala | |
| NM_001308312.1:c.251T>C (AP4B1) | NP_001295241.1:p.Val84Ala | |
| NM_006594.3:c.755T>C (AP4B1) | NP_006585.2:p.Val252Ala | |
| NM_006594.4:c.755T>C (AP4B1) | NP_006585.2:p.Val252Ala | |
| NR_037864.1:n.760A>G (AP4B1-AS1) | ||
| NR_125965.1:n.928A>G (AP4B1-AS1) | ||
| XM_005270381.2:c.755T>C (AP4B1) | XP_005270438.1:p.Val252Ala | |
| XM_005270382.3:c.755T>C (AP4B1) | XP_005270439.1:p.Val252Ala | |
| XM_011540523.1:c.530T>C (AP4B1) | XP_011538825.1:p.Val177Ala | |
| XM_011540524.1:c.530T>C (AP4B1) | XP_011538826.1:p.Val177Ala | |
| XM_011540525.1:c.476T>C (AP4B1) | XP_011538827.1:p.Val159Ala | |
| XM_011540527.1:c.137T>C (AP4B1) | XP_011538829.1:p.Val46Ala | |
| XR_246227.1:n.937T>C (AP4B1) | ||
| XR_246228.2:n.937T>C (AP4B1) | ||
| XM_011540523.3:c.530T>C (AP4B1) | XP_011538825.1:p.Val177Ala | |
| XM_011540525.3:c.476T>C (AP4B1) | XP_011538827.1:p.Val159Ala | |
| XM_017000089.2:c.755T>C (AP4B1) | XP_016855578.1:p.Val252Ala | |
| XM_017000090.1:c.251T>C (AP4B1) | XP_016855579.1:p.Val84Ala | |
| XM_017000091.2:c.476T>C (AP4B1) | XP_016855580.1:p.Val159Ala | |
| XM_017000092.2:c.-490T>C (AP4B1) | XP_016855581.1:n.-490T>C | |
| XM_017000093.2:c.755T>C (AP4B1) | XP_016855582.1:p.Val252Ala | |
| XM_024452422.1:c.476T>C (AP4B1) | XP_024308190.1:p.Val159Ala | |
| XM_024452423.1:c.755T>C (AP4B1) | XP_024308191.1:p.Val252Ala | |
| XM_024452435.1:c.530T>C (AP4B1) | XP_024308203.1:p.Val177Ala | |
| XM_024452441.1:c.251T>C (AP4B1) | XP_024308209.1:p.Val84Ala | |
| XR_001736928.2:n.957T>C (AP4B1) | ||
| XR_001736930.2:n.957T>C (AP4B1) | ||
| XR_002958805.1:n.957T>C (AP4B1) | ||
| XR_002958806.1:n.957T>C (AP4B1) | ||
| XR_002958807.1:n.837T>C (AP4B1) | ||
| NM_001253852.3:c.755T>C (AP4B1) MANE Select | NP_001240781.1:p.Val252Ala | |
| NM_001253853.3:c.458T>C (AP4B1) | NP_001240782.1:p.Val153Ala | |
| NM_001308312.2:c.251T>C (AP4B1) | NP_001295241.1:p.Val84Ala | |
| NM_006594.5:c.755T>C (AP4B1) | NP_006585.2:p.Val252Ala |