Linked Data
ClinVar Variation Id:
1410027
ClinVar RCV Id:
RCV001916225
dbSNP Id:
rs1230787334
gnomAD v2:
1-114438883-T-C
gnomAD v3:
1-113896261-T-C
gnomAD v4:
1-113896261-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113896261T>C , CM000663.2:g.113896261T>C | GRCh38 |
| NC_000001.10:g.114438883T>C , CM000663.1:g.114438883T>C | GRCh37 |
| NC_000001.9:g.114240406T>C | NCBI36 |
| NG_031901.1:g.13859A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369564.6:c.1282A>G (AP4B1) | ENSP00000358577.2:p.Ile428Val | |
| ENST00000369567.6:c.1003A>G (AP4B1) | ENSP00000358580.1:p.Ile335Val | |
| ENST00000369571.3:c.1507A>G (AP4B1) | ENSP00000358584.3:p.Ile503Val | |
| ENST00000432415.6:c.1003A>G (AP4B1) | ENSP00000393622.2:p.Ile335Val | |
| ENST00000460653.2:c.*577A>G (AP4B1) | ENSP00000518881.1:n.*577A>G | |
| ENST00000484201.6:c.*257A>G (AP4B1) | ENSP00000518883.1:n.*257A>G | |
| ENST00000489499.6:c.*849A>G (AP4B1) | ENSP00000518882.1:n.*849A>G | |
| ENST00000713588.1:c.*618A>G (AP4B1) | ENSP00000518880.1:n.*618A>G | |
| ENST00000713590.1:c.1507A>G (AP4B1) | ENSP00000518886.1:p.Ile503Val | |
| ENST00000369569.6:c.1507A>G (AP4B1) MANE Select | ENSP00000358582.1:p.Ile503Val | |
| ENST00000256658.8:c.1507A>G (AP4B1) | ENSP00000256658.4:p.Ile503Val | |
| ENST00000369567.5:c.1003A>G (AP4B1) | ENSP00000358580.1:p.Ile335Val | |
| ENST00000369569.5:c.1507A>G (AP4B1) | ENSP00000358582.1:p.Ile503Val | |
| ENST00000462591.1:n.1679A>G (AP4B1) | ||
| ENST00000479285.5:n.735A>G (AP4B1) | ||
| ENST00000479801.1:n.341A>G (AP4B1) | ||
| NM_001253852.1:c.1507A>G (AP4B1) | NP_001240781.1:p.Ile503Val | |
| NM_001253852.2:c.1507A>G (AP4B1) | NP_001240781.1:p.Ile503Val | |
| NM_001253853.1:c.1210A>G (AP4B1) | NP_001240782.1:p.Ile404Val | |
| NM_001253853.2:c.1210A>G (AP4B1) | NP_001240782.1:p.Ile404Val | |
| NM_001308312.1:c.1003A>G (AP4B1) | NP_001295241.1:p.Ile335Val | |
| NM_006594.3:c.1507A>G (AP4B1) | NP_006585.2:p.Ile503Val | |
| NM_006594.4:c.1507A>G (AP4B1) | NP_006585.2:p.Ile503Val | |
| NR_037864.1:n.247-1607T>C (AP4B1-AS1) | ||
| NR_125965.1:n.415-1607T>C (AP4B1-AS1) | ||
| XM_005270381.2:c.1199-223A>G (AP4B1) | XP_005270438.1:n.1199-223A>G | |
| XM_011540523.1:c.1282A>G (AP4B1) | XP_011538825.1:p.Ile428Val | |
| XM_011540524.1:c.1282A>G (AP4B1) | XP_011538826.1:p.Ile428Val | |
| XM_011540525.1:c.1228A>G (AP4B1) | XP_011538827.1:p.Ile410Val | |
| XM_011540527.1:c.889A>G (AP4B1) | XP_011538829.1:p.Ile297Val | |
| XM_011540528.1:c.532A>G (AP4B1) | XP_011538830.1:p.Ile178Val | |
| XR_246227.1:n.1485-223A>G (AP4B1) | ||
| XM_011540523.3:c.1282A>G (AP4B1) | XP_011538825.1:p.Ile428Val | |
| XM_011540525.3:c.1228A>G (AP4B1) | XP_011538827.1:p.Ile410Val | |
| XM_017000089.2:c.1199-223A>G (AP4B1) | XP_016855578.1:n.1199-223A>G | |
| XM_017000090.1:c.1003A>G (AP4B1) | XP_016855579.1:p.Ile335Val | |
| XM_017000091.2:c.920-223A>G (AP4B1) | XP_016855580.1:n.920-223A>G | |
| XM_017000092.2:c.532A>G (AP4B1) | XP_016855581.1:p.Ile178Val | |
| XM_024452422.1:c.1228A>G (AP4B1) | XP_024308190.1:p.Ile410Val | |
| XM_024452423.1:c.1199-223A>G (AP4B1) | XP_024308191.1:n.1199-223A>G | |
| XM_024452435.1:c.974-223A>G (AP4B1) | XP_024308203.1:n.974-223A>G | |
| XM_024452441.1:c.695-223A>G (AP4B1) | XP_024308209.1:n.695-223A>G | |
| XR_001736928.2:n.1937A>G (AP4B1) | ||
| XR_001736930.2:n.2081A>G (AP4B1) | ||
| XR_002958805.1:n.1505-223A>G (AP4B1) | ||
| XR_002958806.1:n.1978A>G (AP4B1) | ||
| XR_002958807.1:n.1817A>G (AP4B1) | ||
| NM_001253852.3:c.1507A>G (AP4B1) MANE Select | NP_001240781.1:p.Ile503Val | |
| NM_001253853.3:c.1210A>G (AP4B1) | NP_001240782.1:p.Ile404Val | |
| NM_001308312.2:c.1003A>G (AP4B1) | NP_001295241.1:p.Ile335Val | |
| NM_006594.5:c.1507A>G (AP4B1) | NP_006585.2:p.Ile503Val |