Linked Data
ClinVar Variation Id:
543932
dbSNP Id:
rs61730898
ExAC:
X:129270098 A / C
gnomAD v2:
X-129270098-A-C
gnomAD v3:
X-130136123-A-C
gnomAD v4:
X-130136123-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.130136123A>C , CM000685.2:g.130136123A>C | GRCh38 |
| NC_000023.10:g.129270098A>C , CM000685.1:g.129270098A>C | GRCh37 |
| NC_000023.9:g.129097779A>C | NCBI36 |
| NG_013217.1:g.34711T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287295.8:c.1227T>G (AIFM1) MANE Select | ENSP00000287295.3:p.Thr409= | |
| ENST00000319908.8:c.1224T>G (AIFM1) | ENSP00000315122.4:p.Thr408= | |
| ENST00000416073.7:c.1221T>G (AIFM1) | ENSP00000402535.3:p.Thr407= | |
| ENST00000533719.2:n.1019T>G (AIFM1) | ||
| ENST00000535724.6:c.*455T>G (AIFM1) | ENSP00000446113.2:n.*455T>G | |
| ENST00000674546.1:c.1227T>G (AIFM1) | ENSP00000501950.1:p.Thr409= | |
| ENST00000674555.1:c.*962T>G (AIFM1) | ENSP00000502183.1:n.*962T>G | |
| ENST00000674601.1:c.152+520T>G (AIFM1) | ||
| ENST00000674722.1:c.*395T>G (AIFM1) | ENSP00000501693.1:n.*395T>G | |
| ENST00000674957.1:c.924T>G (AIFM1) | ||
| ENST00000674997.1:c.1084T>G (AIFM1) | ENSP00000502124.1:n.1084T>G | |
| ENST00000675015.1:n.1566T>G (AIFM1) | ||
| ENST00000675037.1:c.1227T>G (AIFM1) | ENSP00000501724.1:p.Thr409= | |
| ENST00000675050.1:c.1215T>G (AIFM1) | ENSP00000502606.1:p.Thr405= | |
| ENST00000675092.1:c.1227T>G (AIFM1) | ENSP00000501772.1:p.Thr409= | |
| ENST00000675111.1:n.1152T>G (AIFM1) | ||
| ENST00000675240.1:c.1227T>G (AIFM1) | ENSP00000501907.1:p.Thr409= | |
| ENST00000675427.1:c.1227T>G (AIFM1) | ENSP00000501880.1:p.Thr409= | |
| ENST00000675857.1:c.1221T>G (AIFM1) | ENSP00000502721.1:p.Thr407= | |
| ENST00000676048.1:n.4349T>G (AIFM1) | ||
| ENST00000676229.1:c.1215T>G (AIFM1) | ENSP00000502184.1:p.Thr405= | |
| ENST00000676328.1:c.1224T>G (AIFM1) | ENSP00000502068.1:p.Thr408= | |
| ENST00000676436.1:c.1215T>G (AIFM1) | ENSP00000502669.1:p.Thr405= | |
| ENST00000287295.7:c.1227T>G (AIFM1) | ENSP00000287295.3:p.Thr409= | |
| ENST00000319908.7:c.1215T>G (AIFM1) | ENSP00000315122.3:p.Thr405= | |
| ENST00000346424.6:c.366T>G (AIFM1) | ENSP00000316320.3:p.Thr122= | |
| ENST00000416073.6:c.*455T>G (AIFM1) | ENSP00000402535.2:n.*455T>G | |
| ENST00000460436.6:c.210T>G (AIFM1) | ENSP00000431222.1:p.Thr70= | |
| ENST00000527892.5:c.*1155T>G (AIFM1) | ENSP00000435955.1:n.*1155T>G | |
| ENST00000535724.5:c.*455T>G (AIFM1) | ENSP00000446113.2:n.*455T>G | |
| NM_001130846.2:c.171T>G (AIFM1) | NP_001124318.1:p.Thr57= | |
| NM_001130846.3:c.210T>G (AIFM1) | NP_001124318.2:p.Thr70= | |
| NM_001130847.3:c.*455T>G (AIFM1) | NP_001124319.1:n.*455T>G | |
| NM_004208.3:c.1227T>G (AIFM1) | NP_004199.1:p.Thr409= | |
| NM_145812.2:c.1215T>G (AIFM1) | NP_665811.1:p.Thr405= | |
| NM_145813.2:c.366T>G (AIFM1) | NP_665812.1:p.Thr122= | |
| NR_132647.1:n.1518T>G (AIFM1) | ||
| XM_017029963.2:c.30+18738A>C (RAB33A) | XP_016885452.1:n.30+18738A>C | |
| NM_004208.4:c.1227T>G (AIFM1) MANE Select | NP_004199.1:p.Thr409= | |
| NM_001130846.4:c.210T>G (AIFM1) | NP_001124318.2:p.Thr70= | |
| NM_001130847.4:c.*455T>G (AIFM1) | NP_001124319.1:n.*455T>G | |
| NM_145812.3:c.1215T>G (AIFM1) | NP_665811.1:p.Thr405= | |
| NR_132647.2:n.1472T>G (AIFM1) |