Linked Data
dbSNP Id:
rs771777631
ExAC:
X:129273840 G / A
gnomAD v2:
X-129273840-G-A
gnomAD v4:
X-130139865-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.130139865G>A , CM000685.2:g.130139865G>A | GRCh38 |
| NC_000023.10:g.129273840G>A , CM000685.1:g.129273840G>A | GRCh37 |
| NC_000023.9:g.129101521G>A | NCBI36 |
| NG_013217.1:g.30969C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287295.8:c.788C>T (AIFM1) MANE Select | ENSP00000287295.3:p.Thr263Ile | |
| ENST00000319908.8:c.785C>T (AIFM1) | ENSP00000315122.4:p.Thr262Ile | |
| ENST00000416073.7:c.782C>T (AIFM1) | ENSP00000402535.3:p.Thr261Ile | |
| ENST00000533719.2:n.580C>T (AIFM1) | ||
| ENST00000535724.6:c.788C>T (AIFM1) | ENSP00000446113.2:p.Thr263Ile | |
| ENST00000674546.1:c.788C>T (AIFM1) | ENSP00000501950.1:p.Thr263Ile | |
| ENST00000674555.1:c.*523C>T (AIFM1) | ENSP00000502183.1:n.*523C>T | |
| ENST00000674722.1:c.703C>T (AIFM1) | ENSP00000501693.1:p.Leu235Phe | |
| ENST00000674957.1:c.489C>T (AIFM1) | ||
| ENST00000674997.1:c.645C>T (AIFM1) | ENSP00000502124.1:n.645C>T | |
| ENST00000675037.1:c.788C>T (AIFM1) | ENSP00000501724.1:p.Thr263Ile | |
| ENST00000675050.1:c.776C>T (AIFM1) | ENSP00000502606.1:p.Thr259Ile | |
| ENST00000675092.1:c.788C>T (AIFM1) | ENSP00000501772.1:p.Thr263Ile | |
| ENST00000675111.1:n.713C>T (AIFM1) | ||
| ENST00000675240.1:c.788C>T (AIFM1) | ENSP00000501907.1:p.Thr263Ile | |
| ENST00000675427.1:c.788C>T (AIFM1) | ENSP00000501880.1:p.Thr263Ile | |
| ENST00000675774.1:c.*572C>T (AIFM1) | ENSP00000502690.1:n.*572C>T | |
| ENST00000675857.1:c.782C>T (AIFM1) | ENSP00000502721.1:p.Thr261Ile | |
| ENST00000676048.1:n.3910C>T (AIFM1) | ||
| ENST00000676144.1:c.563C>T (AIFM1) | ||
| ENST00000676229.1:c.776C>T (AIFM1) | ENSP00000502184.1:p.Thr259Ile | |
| ENST00000676328.1:c.785C>T (AIFM1) | ENSP00000502068.1:p.Thr262Ile | |
| ENST00000676436.1:c.782C>T (AIFM1) | ENSP00000502669.1:p.Thr261Ile | |
| ENST00000287295.7:c.788C>T (AIFM1) | ENSP00000287295.3:p.Thr263Ile | |
| ENST00000319908.7:c.776C>T (AIFM1) | ENSP00000315122.3:p.Thr259Ile | |
| ENST00000346424.6:c.107-2680C>T (AIFM1) | ENSP00000316320.3:n.107-2680C>T | |
| ENST00000416073.6:c.788C>T (AIFM1) | ENSP00000402535.2:p.Thr263Ile | |
| ENST00000527892.5:c.*513C>T (AIFM1) | ENSP00000435955.1:n.*513C>T | |
| ENST00000533719.1:n.491C>T (AIFM1) | ||
| ENST00000535724.5:c.788C>T (AIFM1) | ENSP00000446113.2:p.Thr263Ile | |
| NM_001130847.3:c.788C>T (AIFM1) | NP_001124319.1:p.Thr263Ile | |
| NM_004208.3:c.788C>T (AIFM1) | NP_004199.1:p.Thr263Ile | |
| NM_145812.2:c.776C>T (AIFM1) | NP_665811.1:p.Thr259Ile | |
| NM_145813.2:c.107-2680C>T (AIFM1) | NP_665812.1:n.107-2680C>T | |
| NR_132647.1:n.876C>T (AIFM1) | ||
| XM_017029963.2:c.30+22480G>A (RAB33A) | XP_016885452.1:n.30+22480G>A | |
| NM_004208.4:c.788C>T (AIFM1) MANE Select | NP_004199.1:p.Thr263Ile | |
| NM_001130847.4:c.788C>T (AIFM1) | NP_001124319.1:p.Thr263Ile | |
| NM_145812.3:c.776C>T (AIFM1) | NP_665811.1:p.Thr259Ile | |
| NR_132647.2:n.830C>T (AIFM1) |