Linked Data
ClinVar Variation Id:
136322
dbSNP Id:
rs12007545
ExAC:
X:129271132 T / C
gnomAD v2:
X-129271132-T-C
gnomAD v3:
X-130137157-T-C
gnomAD v4:
X-130137157-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.130137157T>C , CM000685.2:g.130137157T>C | GRCh38 |
| NC_000023.10:g.129271132T>C , CM000685.1:g.129271132T>C | GRCh37 |
| NC_000023.9:g.129098813T>C | NCBI36 |
| NG_013217.1:g.33677A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287295.8:c.996A>G (AIFM1) MANE Select | ENSP00000287295.3:p.Gln332= | |
| ENST00000319908.8:c.993A>G (AIFM1) | ENSP00000315122.4:p.Gln331= | |
| ENST00000416073.7:c.990A>G (AIFM1) | ENSP00000402535.3:p.Gln330= | |
| ENST00000533719.2:n.788A>G (AIFM1) | ||
| ENST00000535724.6:c.*224A>G (AIFM1) | ENSP00000446113.2:n.*224A>G | |
| ENST00000674546.1:c.996A>G (AIFM1) | ENSP00000501950.1:p.Gln332= | |
| ENST00000674555.1:c.*731A>G (AIFM1) | ENSP00000502183.1:n.*731A>G | |
| ENST00000674722.1:c.*164A>G (AIFM1) | ENSP00000501693.1:n.*164A>G | |
| ENST00000674957.1:c.697A>G (AIFM1) | ||
| ENST00000674997.1:c.853A>G (AIFM1) | ENSP00000502124.1:n.853A>G | |
| ENST00000675015.1:n.878A>G (AIFM1) | ||
| ENST00000675037.1:c.996A>G (AIFM1) | ENSP00000501724.1:p.Gln332= | |
| ENST00000675050.1:c.984A>G (AIFM1) | ENSP00000502606.1:p.Gln328= | |
| ENST00000675092.1:c.996A>G (AIFM1) | ENSP00000501772.1:p.Gln332= | |
| ENST00000675111.1:n.921A>G (AIFM1) | ||
| ENST00000675240.1:c.996A>G (AIFM1) | ENSP00000501907.1:p.Gln332= | |
| ENST00000675427.1:c.996A>G (AIFM1) | ENSP00000501880.1:p.Gln332= | |
| ENST00000675857.1:c.990A>G (AIFM1) | ENSP00000502721.1:p.Gln330= | |
| ENST00000676048.1:n.4118A>G (AIFM1) | ||
| ENST00000676144.1:c.771A>G (AIFM1) | ||
| ENST00000676229.1:c.984A>G (AIFM1) | ENSP00000502184.1:p.Gln328= | |
| ENST00000676328.1:c.993A>G (AIFM1) | ENSP00000502068.1:p.Gln331= | |
| ENST00000676436.1:c.984A>G (AIFM1) | ENSP00000502669.1:p.Gln328= | |
| ENST00000287295.7:c.996A>G (AIFM1) | ENSP00000287295.3:p.Gln332= | |
| ENST00000319908.7:c.984A>G (AIFM1) | ENSP00000315122.3:p.Gln328= | |
| ENST00000346424.6:c.135A>G (AIFM1) | ENSP00000316320.3:p.Gln45= | |
| ENST00000416073.6:c.*224A>G (AIFM1) | ENSP00000402535.2:n.*224A>G | |
| ENST00000460436.6:c.-22A>G (AIFM1) | ENSP00000431222.1:n.-22A>G | |
| ENST00000527892.5:c.*924A>G (AIFM1) | ENSP00000435955.1:n.*924A>G | |
| ENST00000533719.1:n.699A>G (AIFM1) | ||
| ENST00000535724.5:c.*224A>G (AIFM1) | ENSP00000446113.2:n.*224A>G | |
| NM_001130846.2:c.-61A>G (AIFM1) | NP_001124318.1:n.-61A>G | |
| NM_001130846.3:c.-22A>G (AIFM1) | NP_001124318.2:n.-22A>G | |
| NM_001130847.3:c.*224A>G (AIFM1) | NP_001124319.1:n.*224A>G | |
| NM_004208.3:c.996A>G (AIFM1) | NP_004199.1:p.Gln332= | |
| NM_145812.2:c.984A>G (AIFM1) | NP_665811.1:p.Gln328= | |
| NM_145813.2:c.135A>G (AIFM1) | NP_665812.1:p.Gln45= | |
| NR_132647.1:n.1287A>G (AIFM1) | ||
| XM_017029963.2:c.30+19772T>C (RAB33A) | XP_016885452.1:n.30+19772T>C | |
| NM_004208.4:c.996A>G (AIFM1) MANE Select | NP_004199.1:p.Gln332= | |
| NM_001130846.4:c.-22A>G (AIFM1) | NP_001124318.2:n.-22A>G | |
| NM_001130847.4:c.*224A>G (AIFM1) | NP_001124319.1:n.*224A>G | |
| NM_145812.3:c.984A>G (AIFM1) | NP_665811.1:p.Gln328= | |
| NR_132647.2:n.1241A>G (AIFM1) |