Linked Data
ClinVar Variation Id:
367892
dbSNP Id:
rs1139851
ExAC:
X:129283520 A / G
gnomAD v2:
X-129283520-A-G
gnomAD v3:
X-130149545-A-G
gnomAD v4:
X-130149545-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.130149545A>G , CM000685.2:g.130149545A>G | GRCh38 |
| NC_000023.10:g.129283520A>G , CM000685.1:g.129283520A>G | GRCh37 |
| NC_000023.9:g.129111201A>G | NCBI36 |
| NG_013217.1:g.21289T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287295.8:c.273T>C (AIFM1) MANE Select | ENSP00000287295.3:p.Asp91= | |
| ENST00000319908.8:c.273T>C (AIFM1) | ENSP00000315122.4:p.Asp91= | |
| ENST00000416073.7:c.273T>C (AIFM1) | ENSP00000402535.3:p.Asp91= | |
| ENST00000533719.2:n.65T>C (AIFM1) | ||
| ENST00000535724.6:c.273T>C (AIFM1) | ENSP00000446113.2:p.Asp91= | |
| ENST00000674546.1:c.273T>C (AIFM1) | ENSP00000501950.1:p.Asp91= | |
| ENST00000674555.1:c.*8T>C (AIFM1) | ENSP00000502183.1:n.*8T>C | |
| ENST00000674722.1:c.273T>C (AIFM1) | ENSP00000501693.1:p.Asp91= | |
| ENST00000674997.1:c.130T>C (AIFM1) | ENSP00000502124.1:p.Ter44Arg | |
| ENST00000675037.1:c.273T>C (AIFM1) | ENSP00000501724.1:p.Asp91= | |
| ENST00000675050.1:c.261T>C (AIFM1) | ENSP00000502606.1:p.Asp87= | |
| ENST00000675092.1:c.273T>C (AIFM1) | ENSP00000501772.1:p.Asp91= | |
| ENST00000675111.1:n.198T>C (AIFM1) | ||
| ENST00000675240.1:c.273T>C (AIFM1) | ENSP00000501907.1:p.Asp91= | |
| ENST00000675427.1:c.273T>C (AIFM1) | ENSP00000501880.1:p.Asp91= | |
| ENST00000675774.1:c.130T>C (AIFM1) | ENSP00000502690.1:p.Ter44Arg | |
| ENST00000675857.1:c.273T>C (AIFM1) | ENSP00000502721.1:p.Asp91= | |
| ENST00000676048.1:n.3395T>C (AIFM1) | ||
| ENST00000676229.1:c.261T>C (AIFM1) | ENSP00000502184.1:p.Asp87= | |
| ENST00000676328.1:c.273T>C (AIFM1) | ENSP00000502068.1:p.Asp91= | |
| ENST00000676436.1:c.273T>C (AIFM1) | ENSP00000502669.1:p.Asp91= | |
| ENST00000287295.7:c.273T>C (AIFM1) | ENSP00000287295.3:p.Asp91= | |
| ENST00000319908.7:c.261T>C (AIFM1) | ENSP00000315122.3:p.Asp87= | |
| ENST00000346424.6:c.107-12360T>C (AIFM1) | ENSP00000316320.3:n.107-12360T>C | |
| ENST00000416073.6:c.273T>C (AIFM1) | ENSP00000402535.2:p.Asp91= | |
| ENST00000527892.5:c.130T>C (AIFM1) | ENSP00000435955.1:p.Ter44Arg | |
| ENST00000529877.1:c.*134T>C (AIFM1) | ENSP00000432998.1:n.*134T>C | |
| ENST00000535724.5:c.273T>C (AIFM1) | ENSP00000446113.2:p.Asp91= | |
| NM_001130847.3:c.273T>C (AIFM1) | NP_001124319.1:p.Asp91= | |
| NM_004208.3:c.273T>C (AIFM1) | NP_004199.1:p.Asp91= | |
| NM_145812.2:c.261T>C (AIFM1) | NP_665811.1:p.Asp87= | |
| NM_145813.2:c.107-12360T>C (AIFM1) | NP_665812.1:n.107-12360T>C | |
| NR_132647.1:n.361T>C (AIFM1) | ||
| XM_017029963.2:c.30+32160A>G (RAB33A) | XP_016885452.1:n.30+32160A>G | |
| NM_004208.4:c.273T>C (AIFM1) MANE Select | NP_004199.1:p.Asp91= | |
| NM_001130847.4:c.273T>C (AIFM1) | NP_001124319.1:p.Asp91= | |
| NM_145812.3:c.261T>C (AIFM1) | NP_665811.1:p.Asp87= | |
| NR_132647.2:n.315T>C (AIFM1) |