Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89831025C= , CM000677.2:g.89831025C= | GRCh38 |
| NC_000015.9:g.90374257C= , CM000677.1:g.90374257C= | GRCh37 |
| NC_000015.8:g.88175261C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005829.5:c.*4490G= (AP3S2) MANE Select | NP_005820.1:n.*4490G= |
| ENST00000336418.9:c.*4490G= (AP3S2) MANE Select | ENSP00000338777.4:n.*4490G= |
| NM_001199058.1:c.*4490G= (ARPIN-AP3S2) | NP_001185987.1:n.*4490G= |
| NM_001199058.2:c.*4490G= (ARPIN-AP3S2) | NP_001185987.1:n.*4490G= |
| NM_005829.4:c.*4490G= (AP3S2) | NP_005820.1:n.*4490G= |
| NR_023361.1:n.5627G= (AP3S2) | |
| NR_023361.2:n.5236G= (AP3S2) | |
| NR_037582.1:n.5504G= (AP3S2) | |
| NR_037582.2:n.5113G= (AP3S2) | |
| ENST00000336418.8:c.*4490G= (AP3S2) | ENSP00000338777.4:n.*4490G= |