Linked Data
dbSNP Id:
rs993574840
gnomAD v2:
1-114439085-C-T
gnomAD v4:
1-113896463-C-T
COSMIC:
COSM5598008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113896463C>T , CM000663.2:g.113896463C>T | GRCh38 |
| NC_000001.10:g.114439085C>T , CM000663.1:g.114439085C>T | GRCh37 |
| NC_000001.9:g.114240608C>T | NCBI36 |
| NG_031901.1:g.13657G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369564.6:c.1080G>A (AP4B1) | ENSP00000358577.2:p.Gly360= | |
| ENST00000369567.6:c.801G>A (AP4B1) | ENSP00000358580.1:p.Gly267= | |
| ENST00000369571.3:c.1305G>A (AP4B1) | ENSP00000358584.3:p.Gly435= | |
| ENST00000432415.6:c.801G>A (AP4B1) | ENSP00000393622.2:p.Gly267= | |
| ENST00000460653.2:c.*375G>A (AP4B1) | ENSP00000518881.1:n.*375G>A | |
| ENST00000484201.6:c.*55G>A (AP4B1) | ENSP00000518883.1:n.*55G>A | |
| ENST00000489499.6:c.*647G>A (AP4B1) | ENSP00000518882.1:n.*647G>A | |
| ENST00000713588.1:c.*416G>A (AP4B1) | ENSP00000518880.1:n.*416G>A | |
| ENST00000713590.1:c.1305G>A (AP4B1) | ENSP00000518886.1:p.Gly435= | |
| ENST00000369569.6:c.1305G>A (AP4B1) MANE Select | ENSP00000358582.1:p.Gly435= | |
| ENST00000256658.8:c.1305G>A (AP4B1) | ENSP00000256658.4:p.Gly435= | |
| ENST00000369567.5:c.801G>A (AP4B1) | ENSP00000358580.1:p.Gly267= | |
| ENST00000369569.5:c.1305G>A (AP4B1) | ENSP00000358582.1:p.Gly435= | |
| ENST00000462591.1:n.1477G>A (AP4B1) | ||
| ENST00000479285.5:n.533G>A (AP4B1) | ||
| ENST00000479801.1:n.139G>A (AP4B1) | ||
| ENST00000484201.5:n.867G>A (AP4B1) | ||
| NM_001253852.1:c.1305G>A (AP4B1) | NP_001240781.1:p.Gly435= | |
| NM_001253852.2:c.1305G>A (AP4B1) | NP_001240781.1:p.Gly435= | |
| NM_001253853.1:c.1008G>A (AP4B1) | NP_001240782.1:p.Gly336= | |
| NM_001253853.2:c.1008G>A (AP4B1) | NP_001240782.1:p.Gly336= | |
| NM_001308312.1:c.801G>A (AP4B1) | NP_001295241.1:p.Gly267= | |
| NM_006594.3:c.1305G>A (AP4B1) | NP_006585.2:p.Gly435= | |
| NM_006594.4:c.1305G>A (AP4B1) | NP_006585.2:p.Gly435= | |
| NR_037864.1:n.247-1405C>T (AP4B1-AS1) | ||
| NR_125965.1:n.415-1405C>T (AP4B1-AS1) | ||
| XM_005270381.2:c.1199-425G>A (AP4B1) | XP_005270438.1:n.1199-425G>A | |
| XM_011540523.1:c.1080G>A (AP4B1) | XP_011538825.1:p.Gly360= | |
| XM_011540524.1:c.1080G>A (AP4B1) | XP_011538826.1:p.Gly360= | |
| XM_011540525.1:c.1026G>A (AP4B1) | XP_011538827.1:p.Gly342= | |
| XM_011540527.1:c.687G>A (AP4B1) | XP_011538829.1:p.Gly229= | |
| XM_011540528.1:c.330G>A (AP4B1) | XP_011538830.1:p.Gly110= | |
| XR_246227.1:n.1485-425G>A (AP4B1) | ||
| XM_011540523.3:c.1080G>A (AP4B1) | XP_011538825.1:p.Gly360= | |
| XM_011540525.3:c.1026G>A (AP4B1) | XP_011538827.1:p.Gly342= | |
| XM_017000089.2:c.1199-425G>A (AP4B1) | XP_016855578.1:n.1199-425G>A | |
| XM_017000090.1:c.801G>A (AP4B1) | XP_016855579.1:p.Gly267= | |
| XM_017000091.2:c.920-425G>A (AP4B1) | XP_016855580.1:n.920-425G>A | |
| XM_017000092.2:c.330G>A (AP4B1) | XP_016855581.1:p.Gly110= | |
| XM_024452422.1:c.1026G>A (AP4B1) | XP_024308190.1:p.Gly342= | |
| XM_024452423.1:c.1199-425G>A (AP4B1) | XP_024308191.1:n.1199-425G>A | |
| XM_024452435.1:c.974-425G>A (AP4B1) | XP_024308203.1:n.974-425G>A | |
| XM_024452441.1:c.695-425G>A (AP4B1) | XP_024308209.1:n.695-425G>A | |
| XR_001736928.2:n.1735G>A (AP4B1) | ||
| XR_001736930.2:n.1879G>A (AP4B1) | ||
| XR_002958805.1:n.1505-425G>A (AP4B1) | ||
| XR_002958806.1:n.1776G>A (AP4B1) | ||
| XR_002958807.1:n.1615G>A (AP4B1) | ||
| NM_001253852.3:c.1305G>A (AP4B1) MANE Select | NP_001240781.1:p.Gly435= | |
| NM_001253853.3:c.1008G>A (AP4B1) | NP_001240782.1:p.Gly336= | |
| NM_001308312.2:c.801G>A (AP4B1) | NP_001295241.1:p.Gly267= | |
| NM_006594.5:c.1305G>A (AP4B1) | NP_006585.2:p.Gly435= |