Linked Data
ClinVar Variation Id:
373913
dbSNP Id:
rs761953453
ExAC:
X:129264069 G / A
gnomAD v2:
X-129264069-G-A
gnomAD v3:
X-130130094-G-A
gnomAD v4:
X-130130094-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.130130094G>A , CM000685.2:g.130130094G>A | GRCh38 |
| NC_000023.10:g.129264069G>A , CM000685.1:g.129264069G>A | GRCh37 |
| NC_000023.9:g.129091750G>A | NCBI36 |
| NG_013217.1:g.40740C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287295.8:c.1646C>T (AIFM1) MANE Select | ENSP00000287295.3:p.Ala549Val | |
| ENST00000319908.8:c.1640C>T (AIFM1) | ENSP00000315122.4:p.Ala547Val | |
| ENST00000416073.7:c.*310C>T (AIFM1) | ENSP00000402535.3:n.*310C>T | |
| ENST00000535724.6:c.*874C>T (AIFM1) | ENSP00000446113.2:n.*874C>T | |
| ENST00000674546.1:c.1654C>T (AIFM1) | ENSP00000501950.1:p.Gln552Ter | |
| ENST00000674555.1:c.*1381C>T (AIFM1) | ENSP00000502183.1:n.*1381C>T | |
| ENST00000674582.1:n.1823C>T (AIFM1) | ||
| ENST00000674591.1:n.1132C>T (AIFM1) | ||
| ENST00000674601.1:c.493C>T (AIFM1) | ||
| ENST00000674722.1:c.*814C>T (AIFM1) | ENSP00000501693.1:n.*814C>T | |
| ENST00000674957.1:c.1343C>T (AIFM1) | ||
| ENST00000674997.1:c.1503C>T (AIFM1) | ENSP00000502124.1:n.1503C>T | |
| ENST00000675037.1:c.*192C>T (AIFM1) | ENSP00000501724.1:n.*192C>T | |
| ENST00000675050.1:c.1634C>T (AIFM1) | ENSP00000502606.1:p.Ala545Val | |
| ENST00000675092.1:c.1673C>T (AIFM1) | ENSP00000501772.1:p.Ala558Val | |
| ENST00000675111.1:n.1571C>T (AIFM1) | ||
| ENST00000675240.1:c.1582C>T (AIFM1) | ENSP00000501907.1:p.Gln528Ter | |
| ENST00000675427.1:c.1643C>T (AIFM1) | ENSP00000501880.1:p.Ala548Val | |
| ENST00000675857.1:c.1640C>T (AIFM1) | ENSP00000502721.1:p.Ala547Val | |
| ENST00000676048.1:n.4768C>T (AIFM1) | ||
| ENST00000676229.1:c.1634C>T (AIFM1) | ENSP00000502184.1:p.Ala545Val | |
| ENST00000676328.1:c.1643C>T (AIFM1) | ENSP00000502068.1:p.Ala548Val | |
| ENST00000676436.1:c.1634C>T (AIFM1) | ENSP00000502669.1:p.Ala545Val | |
| ENST00000287295.7:c.1646C>T (AIFM1) | ENSP00000287295.3:p.Ala549Val | |
| ENST00000319908.7:c.1634C>T (AIFM1) | ENSP00000315122.3:p.Ala545Val | |
| ENST00000346424.6:c.785C>T (AIFM1) | ENSP00000316320.3:p.Ala262Val | |
| ENST00000416073.6:c.*874C>T (AIFM1) | ENSP00000402535.2:n.*874C>T | |
| ENST00000460436.6:c.629C>T (AIFM1) | ENSP00000431222.1:p.Ala210Val | |
| ENST00000527892.5:c.*1574C>T (AIFM1) | ENSP00000435955.1:n.*1574C>T | |
| ENST00000535724.5:c.*874C>T (AIFM1) | ENSP00000446113.2:n.*874C>T | |
| NM_001130846.2:c.590C>T (AIFM1) | NP_001124318.1:p.Ala197Val | |
| NM_001130846.3:c.629C>T (AIFM1) | NP_001124318.2:p.Ala210Val | |
| NM_001130847.3:c.*874C>T (AIFM1) | NP_001124319.1:n.*874C>T | |
| NM_004208.3:c.1646C>T (AIFM1) | NP_004199.1:p.Ala549Val | |
| NM_145812.2:c.1634C>T (AIFM1) | NP_665811.1:p.Ala545Val | |
| NM_145813.2:c.785C>T (AIFM1) | NP_665812.1:p.Ala262Val | |
| NR_132647.1:n.1937C>T (AIFM1) | ||
| XM_017029963.2:c.30+12709G>A (RAB33A) | XP_016885452.1:n.30+12709G>A | |
| NM_004208.4:c.1646C>T (AIFM1) MANE Select | NP_004199.1:p.Ala549Val | |
| NM_001130846.4:c.629C>T (AIFM1) | NP_001124318.2:p.Ala210Val | |
| NM_001130847.4:c.*874C>T (AIFM1) | NP_001124319.1:n.*874C>T | |
| NM_145812.3:c.1634C>T (AIFM1) | NP_665811.1:p.Ala545Val | |
| NR_132647.2:n.1891C>T (AIFM1) |