Linked Data
ClinVar Variation Id:
162475
ClinVar RCV Id:
RCV001347906
dbSNP Id:
rs724160017
ExAC:
X:129273783 G / A
gnomAD v2:
X-129273783-G-A
gnomAD v3:
X-130139808-G-A
gnomAD v4:
X-130139808-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.130139808G>A , CM000685.2:g.130139808G>A | GRCh38 |
| NC_000023.10:g.129273783G>A , CM000685.1:g.129273783G>A | GRCh37 |
| NC_000023.9:g.129101464G>A | NCBI36 |
| NG_013217.1:g.31026C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287295.8:c.845C>T (AIFM1) MANE Select | ENSP00000287295.3:p.Thr282Met | |
| ENST00000319908.8:c.842C>T (AIFM1) | ENSP00000315122.4:p.Thr281Met | |
| ENST00000416073.7:c.839C>T (AIFM1) | ENSP00000402535.3:p.Thr280Met | |
| ENST00000533719.2:n.637C>T (AIFM1) | ||
| ENST00000535724.6:c.845C>T (AIFM1) | ENSP00000446113.2:p.Thr282Met | |
| ENST00000674546.1:c.845C>T (AIFM1) | ENSP00000501950.1:p.Thr282Met | |
| ENST00000674555.1:c.*580C>T (AIFM1) | ENSP00000502183.1:n.*580C>T | |
| ENST00000674722.1:c.*13C>T (AIFM1) | ENSP00000501693.1:n.*13C>T | |
| ENST00000674957.1:c.546C>T (AIFM1) | ||
| ENST00000674997.1:c.702C>T (AIFM1) | ENSP00000502124.1:n.702C>T | |
| ENST00000675037.1:c.845C>T (AIFM1) | ENSP00000501724.1:p.Thr282Met | |
| ENST00000675050.1:c.833C>T (AIFM1) | ENSP00000502606.1:p.Thr278Met | |
| ENST00000675092.1:c.845C>T (AIFM1) | ENSP00000501772.1:p.Thr282Met | |
| ENST00000675111.1:n.770C>T (AIFM1) | ||
| ENST00000675240.1:c.845C>T (AIFM1) | ENSP00000501907.1:p.Thr282Met | |
| ENST00000675427.1:c.845C>T (AIFM1) | ENSP00000501880.1:p.Thr282Met | |
| ENST00000675774.1:c.*629C>T (AIFM1) | ENSP00000502690.1:n.*629C>T | |
| ENST00000675857.1:c.839C>T (AIFM1) | ENSP00000502721.1:p.Thr280Met | |
| ENST00000676048.1:n.3967C>T (AIFM1) | ||
| ENST00000676144.1:c.620C>T (AIFM1) | ||
| ENST00000676229.1:c.833C>T (AIFM1) | ENSP00000502184.1:p.Thr278Met | |
| ENST00000676328.1:c.842C>T (AIFM1) | ENSP00000502068.1:p.Thr281Met | |
| ENST00000676436.1:c.839C>T (AIFM1) | ENSP00000502669.1:p.Thr280Met | |
| ENST00000287295.7:c.845C>T (AIFM1) | ENSP00000287295.3:p.Thr282Met | |
| ENST00000319908.7:c.833C>T (AIFM1) | ENSP00000315122.3:p.Thr278Met | |
| ENST00000346424.6:c.107-2623C>T (AIFM1) | ENSP00000316320.3:n.107-2623C>T | |
| ENST00000416073.6:c.845C>T (AIFM1) | ENSP00000402535.2:p.Thr282Met | |
| ENST00000527892.5:c.*570C>T (AIFM1) | ENSP00000435955.1:n.*570C>T | |
| ENST00000533719.1:n.548C>T (AIFM1) | ||
| ENST00000535724.5:c.845C>T (AIFM1) | ENSP00000446113.2:p.Thr282Met | |
| NM_001130847.3:c.845C>T (AIFM1) | NP_001124319.1:p.Thr282Met | |
| NM_004208.3:c.845C>T (AIFM1) | NP_004199.1:p.Thr282Met | |
| NM_145812.2:c.833C>T (AIFM1) | NP_665811.1:p.Thr278Met | |
| NM_145813.2:c.107-2623C>T (AIFM1) | NP_665812.1:n.107-2623C>T | |
| NR_132647.1:n.933C>T (AIFM1) | ||
| XM_017029963.2:c.30+22423G>A (RAB33A) | XP_016885452.1:n.30+22423G>A | |
| NM_004208.4:c.845C>T (AIFM1) MANE Select | NP_004199.1:p.Thr282Met | |
| NM_001130847.4:c.845C>T (AIFM1) | NP_001124319.1:p.Thr282Met | |
| NM_145812.3:c.833C>T (AIFM1) | NP_665811.1:p.Thr278Met | |
| NR_132647.2:n.887C>T (AIFM1) |