Linked Data
ClinVar Variation Id:
220727
dbSNP Id:
rs114734921
ExAC:
1:114438448 T / C
gnomAD v2:
1-114438448-T-C
gnomAD v3:
1-113895826-T-C
gnomAD v4:
1-113895826-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113895826T>C , CM000663.2:g.113895826T>C | GRCh38 |
| NC_000001.10:g.114438448T>C , CM000663.1:g.114438448T>C | GRCh37 |
| NC_000001.9:g.114239971T>C | NCBI36 |
| NG_031901.1:g.14294A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369564.6:c.1498A>G (AP4B1) | ENSP00000358577.2:p.Ile500Val | |
| ENST00000369567.6:c.1219A>G (AP4B1) | ENSP00000358580.1:p.Ile407Val | |
| ENST00000369571.3:c.1723A>G (AP4B1) | ENSP00000358584.3:p.Ile575Val | |
| ENST00000432415.6:c.1219A>G (AP4B1) | ENSP00000393622.2:p.Ile407Val | |
| ENST00000460653.2:c.*793A>G (AP4B1) | ENSP00000518881.1:n.*793A>G | |
| ENST00000484201.6:c.*473A>G (AP4B1) | ENSP00000518883.1:n.*473A>G | |
| ENST00000489499.6:c.*1065A>G (AP4B1) | ENSP00000518882.1:n.*1065A>G | |
| ENST00000713588.1:c.*834A>G (AP4B1) | ENSP00000518880.1:n.*834A>G | |
| ENST00000713590.1:c.1723A>G (AP4B1) | ENSP00000518886.1:p.Ile575Val | |
| ENST00000369569.6:c.1723A>G (AP4B1) MANE Select | ENSP00000358582.1:p.Ile575Val | |
| ENST00000256658.8:c.1723A>G (AP4B1) | ENSP00000256658.4:p.Ile575Val | |
| ENST00000369567.5:c.1219A>G (AP4B1) | ENSP00000358580.1:p.Ile407Val | |
| ENST00000369569.5:c.1723A>G (AP4B1) | ENSP00000358582.1:p.Ile575Val | |
| ENST00000462591.1:n.1895A>G (AP4B1) | ||
| ENST00000479285.5:n.1170A>G (AP4B1) | ||
| NM_001253852.1:c.1723A>G (AP4B1) | NP_001240781.1:p.Ile575Val | |
| NM_001253852.2:c.1723A>G (AP4B1) | NP_001240781.1:p.Ile575Val | |
| NM_001253853.1:c.1426A>G (AP4B1) | NP_001240782.1:p.Ile476Val | |
| NM_001253853.2:c.1426A>G (AP4B1) | NP_001240782.1:p.Ile476Val | |
| NM_001308312.1:c.1219A>G (AP4B1) | NP_001295241.1:p.Ile407Val | |
| NM_006594.3:c.1723A>G (AP4B1) | NP_006585.2:p.Ile575Val | |
| NM_006594.4:c.1723A>G (AP4B1) | NP_006585.2:p.Ile575Val | |
| NR_037864.1:n.247-2042T>C (AP4B1-AS1) | ||
| NR_125965.1:n.415-2042T>C (AP4B1-AS1) | ||
| XM_005270381.2:c.1411A>G (AP4B1) | XP_005270438.1:p.Ile471Val | |
| XM_011540523.1:c.1498A>G (AP4B1) | XP_011538825.1:p.Ile500Val | |
| XM_011540524.1:c.1498A>G (AP4B1) | XP_011538826.1:p.Ile500Val | |
| XM_011540525.1:c.1444A>G (AP4B1) | XP_011538827.1:p.Ile482Val | |
| XM_011540527.1:c.1105A>G (AP4B1) | XP_011538829.1:p.Ile369Val | |
| XM_011540528.1:c.748A>G (AP4B1) | XP_011538830.1:p.Ile250Val | |
| XR_246227.1:n.1697A>G (AP4B1) | ||
| XM_011540523.3:c.1498A>G (AP4B1) | XP_011538825.1:p.Ile500Val | |
| XM_011540525.3:c.1444A>G (AP4B1) | XP_011538827.1:p.Ile482Val | |
| XM_017000089.2:c.1411A>G (AP4B1) | XP_016855578.1:p.Ile471Val | |
| XM_017000090.1:c.1219A>G (AP4B1) | XP_016855579.1:p.Ile407Val | |
| XM_017000091.2:c.1132A>G (AP4B1) | XP_016855580.1:p.Ile378Val | |
| XM_017000092.2:c.748A>G (AP4B1) | XP_016855581.1:p.Ile250Val | |
| XM_024452422.1:c.1444A>G (AP4B1) | XP_024308190.1:p.Ile482Val | |
| XM_024452423.1:c.1411A>G (AP4B1) | XP_024308191.1:p.Ile471Val | |
| XM_024452435.1:c.1186A>G (AP4B1) | XP_024308203.1:p.Ile396Val | |
| XM_024452441.1:c.907A>G (AP4B1) | XP_024308209.1:p.Ile303Val | |
| XR_001736928.2:n.2153A>G (AP4B1) | ||
| XR_001736930.2:n.2297A>G (AP4B1) | ||
| XR_002958805.1:n.1717A>G (AP4B1) | ||
| XR_002958806.1:n.2194A>G (AP4B1) | ||
| XR_002958807.1:n.2252A>G (AP4B1) | ||
| NM_001253852.3:c.1723A>G (AP4B1) MANE Select | NP_001240781.1:p.Ile575Val | |
| NM_001253853.3:c.1426A>G (AP4B1) | NP_001240782.1:p.Ile476Val | |
| NM_001308312.2:c.1219A>G (AP4B1) | NP_001295241.1:p.Ile407Val | |
| NM_006594.5:c.1723A>G (AP4B1) | NP_006585.2:p.Ile575Val |