Linked Data
ClinVar Variation Id:
1609925
ClinVar RCV Id:
RCV002152791
dbSNP Id:
rs774846906
ExAC:
7:99699492 C / T
gnomAD v2:
7-99699492-C-T
gnomAD v4:
7-100101869-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100101869C>T , CM000669.2:g.100101869C>T | GRCh38 |
| NC_000007.13:g.99699492C>T , CM000669.1:g.99699492C>T | GRCh37 |
| NC_000007.12:g.99537428C>T | NCBI36 |
| NG_016312.1:g.5363C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445295.2:c.59-11C>T (AP4M1) | ENSP00000393723.2:n.59-11C>T | |
| ENST00000489841.6:n.72G>A (MCM7) | ||
| ENST00000713591.1:c.59-11C>T (AP4M1) | ENSP00000518888.1:n.59-11C>T | |
| ENST00000359593.9:c.59-11C>T (AP4M1) MANE Select | ENSP00000352603.4:n.59-11C>T | |
| ENST00000303887.9:c.-575G>A (MCM7) | ENSP00000307288.5:n.-575G>A | |
| ENST00000343023.10:c.-575G>A (MCM7) | ENSP00000344006.6:n.-575G>A | |
| ENST00000359593.8:c.59-11C>T (AP4M1) | ENSP00000352603.4:n.59-11C>T | |
| ENST00000394061.7:c.59-11C>T (AP4M1) | ENSP00000377625.3:n.59-11C>T | |
| ENST00000416938.5:c.4C>T (AP4M1) | ||
| ENST00000421755.5:c.59-11C>T (AP4M1) | ENSP00000412185.1:n.59-11C>T | |
| ENST00000429084.5:c.59-11C>T (AP4M1) | ENSP00000403663.1:n.59-11C>T | |
| ENST00000438383.5:c.59-11C>T (AP4M1) | ENSP00000401613.1:n.59-11C>T | |
| ENST00000439416.5:c.59-11C>T (AP4M1) | ENSP00000414286.1:n.59-11C>T | |
| ENST00000445208.5:c.59-11C>T (AP4M1) | ENSP00000400598.1:n.59-11C>T | |
| ENST00000446007.5:c.59-11C>T (AP4M1) | ENSP00000396928.1:n.59-11C>T | |
| ENST00000463195.5:n.101C>T (AP4M1) | ||
| ENST00000478501.5:n.138-11C>T (AP4M1) | ||
| ENST00000621318.4:c.-1178G>A (MCM7) | ENSP00000483795.1:n.-1178G>A | |
| NM_001278595.1:c.-1178G>A (MCM7) | NP_001265524.1:n.-1178G>A | |
| NM_004722.3:c.59-11C>T (AP4M1) | NP_004713.2:n.59-11C>T | |
| NM_005916.4:c.-575G>A (MCM7) | NP_005907.3:n.-575G>A | |
| XM_005250689.3:c.59-11C>T (AP4M1) | XP_005250746.1:n.59-11C>T | |
| XM_005250690.3:c.59-11C>T (AP4M1) | XP_005250747.1:n.59-11C>T | |
| XM_006716175.2:c.59-11C>T (AP4M1) | XP_006716238.1:n.59-11C>T | |
| XM_011516685.1:c.59-11C>T (AP4M1) | XP_011514987.1:n.59-11C>T | |
| XM_011516686.1:c.-401-11C>T (AP4M1) | XP_011514988.1:n.-401-11C>T | |
| NM_001363671.1:c.59-11C>T (AP4M1) | NP_001350600.1:n.59-11C>T | |
| XM_005250689.4:c.59-11C>T (AP4M1) | XP_005250746.1:n.59-11C>T | |
| XM_005250690.4:c.59-11C>T (AP4M1) | XP_005250747.1:n.59-11C>T | |
| XM_006716175.4:c.59-11C>T (AP4M1) | XP_006716238.1:n.59-11C>T | |
| XM_017012791.2:c.-346-11C>T (AP4M1) | XP_016868280.1:n.-346-11C>T | |
| XM_024446995.1:c.59-11C>T (AP4M1) | XP_024302763.1:n.59-11C>T | |
| NM_004722.4:c.59-11C>T (AP4M1) MANE Select | NP_004713.2:n.59-11C>T | |
| NM_001363671.2:c.59-11C>T (AP4M1) | NP_001350600.1:n.59-11C>T |