Linked Data
ClinVar Variation Id:
445310
dbSNP Id:
rs201711375
ExAC:
X:129290514 G / C
gnomAD v2:
X-129290514-G-C
gnomAD v3:
X-130156540-G-C
gnomAD v4:
X-130156540-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.130156540G>C , CM000685.2:g.130156540G>C | GRCh38 |
| NC_000023.10:g.129290514G>C , CM000685.1:g.129290514G>C | GRCh37 |
| NC_000023.9:g.129118195G>C | NCBI36 |
| NG_013217.1:g.14295C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287295.8:c.170C>G (AIFM1) MANE Select | ENSP00000287295.3:p.Ser57Cys | |
| ENST00000319908.8:c.170C>G (AIFM1) | ENSP00000315122.4:p.Ser57Cys | |
| ENST00000416073.7:c.170C>G (AIFM1) | ENSP00000402535.3:p.Ser57Cys | |
| ENST00000535724.6:c.170C>G (AIFM1) | ENSP00000446113.2:p.Ser57Cys | |
| ENST00000674546.1:c.170C>G (AIFM1) | ENSP00000501950.1:p.Ser57Cys | |
| ENST00000674555.1:c.170C>G (AIFM1) | ENSP00000502183.1:p.Ser57Cys | |
| ENST00000674722.1:c.170C>G (AIFM1) | ENSP00000501693.1:p.Ser57Cys | |
| ENST00000674997.1:c.107-6972C>G (AIFM1) | ENSP00000502124.1:n.107-6972C>G | |
| ENST00000675037.1:c.170C>G (AIFM1) | ENSP00000501724.1:p.Ser57Cys | |
| ENST00000675050.1:c.107-1254C>G (AIFM1) | ENSP00000502606.1:n.107-1254C>G | |
| ENST00000675092.1:c.170C>G (AIFM1) | ENSP00000501772.1:p.Ser57Cys | |
| ENST00000675111.1:n.95C>G (AIFM1) | ||
| ENST00000675240.1:c.170C>G (AIFM1) | ENSP00000501907.1:p.Ser57Cys | |
| ENST00000675427.1:c.170C>G (AIFM1) | ENSP00000501880.1:p.Ser57Cys | |
| ENST00000675774.1:c.107-6972C>G (AIFM1) | ENSP00000502690.1:n.107-6972C>G | |
| ENST00000675857.1:c.170C>G (AIFM1) | ENSP00000502721.1:p.Ser57Cys | |
| ENST00000676048.1:n.1987C>G (AIFM1) | ||
| ENST00000676229.1:c.107-1254C>G (AIFM1) | ENSP00000502184.1:n.107-1254C>G | |
| ENST00000676328.1:c.170C>G (AIFM1) | ENSP00000502068.1:p.Ser57Cys | |
| ENST00000676436.1:c.170C>G (AIFM1) | ENSP00000502669.1:p.Ser57Cys | |
| ENST00000287295.7:c.170C>G (AIFM1) | ENSP00000287295.3:p.Ser57Cys | |
| ENST00000319908.7:c.107-1254C>G (AIFM1) | ENSP00000315122.3:n.107-1254C>G | |
| ENST00000346424.6:c.106+9011C>G (AIFM1) | ENSP00000316320.3:n.106+9011C>G | |
| ENST00000416073.6:c.170C>G (AIFM1) | ENSP00000402535.2:p.Ser57Cys | |
| ENST00000527892.5:c.107-6972C>G (AIFM1) | ENSP00000435955.1:n.107-6972C>G | |
| ENST00000529877.1:c.170C>G (AIFM1) | ENSP00000432998.1:p.Ser57Cys | |
| ENST00000535724.5:c.170C>G (AIFM1) | ENSP00000446113.2:p.Ser57Cys | |
| NM_001130847.3:c.170C>G (AIFM1) | NP_001124319.1:p.Ser57Cys | |
| NM_004208.3:c.170C>G (AIFM1) | NP_004199.1:p.Ser57Cys | |
| NM_145812.2:c.107-1254C>G (AIFM1) | NP_665811.1:n.107-1254C>G | |
| NM_145813.2:c.106+9011C>G (AIFM1) | NP_665812.1:n.106+9011C>G | |
| NR_132647.1:n.338-6972C>G (AIFM1) | ||
| XM_017029963.2:c.31-27745G>C (RAB33A) | XP_016885452.1:n.31-27745G>C | |
| NM_004208.4:c.170C>G (AIFM1) MANE Select | NP_004199.1:p.Ser57Cys | |
| NM_001130847.4:c.170C>G (AIFM1) | NP_001124319.1:p.Ser57Cys | |
| NM_145812.3:c.107-1254C>G (AIFM1) | NP_665811.1:n.107-1254C>G | |
| NR_132647.2:n.292-6972C>G (AIFM1) |