Linked Data
dbSNP Id:
rs192691010
gnomAD v2:
X-129273691-C-T
gnomAD v3:
X-130139716-C-T
gnomAD v4:
X-130139716-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.130139716C>T , CM000685.2:g.130139716C>T | GRCh38 |
| NC_000023.10:g.129273691C>T , CM000685.1:g.129273691C>T | GRCh37 |
| NC_000023.9:g.129101372C>T | NCBI36 |
| NG_013217.1:g.31118G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287295.8:c.858+79G>A (AIFM1) MANE Select | ENSP00000287295.3:n.858+79G>A | |
| ENST00000319908.8:c.855+79G>A (AIFM1) | ENSP00000315122.4:n.855+79G>A | |
| ENST00000416073.7:c.852+79G>A (AIFM1) | ENSP00000402535.3:n.852+79G>A | |
| ENST00000533719.2:n.650+79G>A (AIFM1) | ||
| ENST00000535724.6:c.858+79G>A (AIFM1) | ENSP00000446113.2:n.858+79G>A | |
| ENST00000674546.1:c.858+79G>A (AIFM1) | ENSP00000501950.1:n.858+79G>A | |
| ENST00000674555.1:c.*593+79G>A (AIFM1) | ENSP00000502183.1:n.*593+79G>A | |
| ENST00000674722.1:c.*26+79G>A (AIFM1) | ENSP00000501693.1:n.*26+79G>A | |
| ENST00000674957.1:c.559+79G>A (AIFM1) | ||
| ENST00000674997.1:c.715+79G>A (AIFM1) | ENSP00000502124.1:n.715+79G>A | |
| ENST00000675037.1:c.858+79G>A (AIFM1) | ENSP00000501724.1:n.858+79G>A | |
| ENST00000675050.1:c.846+79G>A (AIFM1) | ENSP00000502606.1:n.846+79G>A | |
| ENST00000675092.1:c.858+79G>A (AIFM1) | ENSP00000501772.1:n.858+79G>A | |
| ENST00000675111.1:n.783+79G>A (AIFM1) | ||
| ENST00000675240.1:c.858+79G>A (AIFM1) | ENSP00000501907.1:n.858+79G>A | |
| ENST00000675427.1:c.858+79G>A (AIFM1) | ENSP00000501880.1:n.858+79G>A | |
| ENST00000675774.1:c.*642+79G>A (AIFM1) | ENSP00000502690.1:n.*642+79G>A | |
| ENST00000675857.1:c.852+79G>A (AIFM1) | ENSP00000502721.1:n.852+79G>A | |
| ENST00000676048.1:n.3980+79G>A (AIFM1) | ||
| ENST00000676144.1:c.633+79G>A (AIFM1) | ||
| ENST00000676229.1:c.846+79G>A (AIFM1) | ENSP00000502184.1:n.846+79G>A | |
| ENST00000676328.1:c.855+79G>A (AIFM1) | ENSP00000502068.1:n.855+79G>A | |
| ENST00000676436.1:c.852+79G>A (AIFM1) | ENSP00000502669.1:n.852+79G>A | |
| ENST00000287295.7:c.858+79G>A (AIFM1) | ENSP00000287295.3:n.858+79G>A | |
| ENST00000319908.7:c.846+79G>A (AIFM1) | ENSP00000315122.3:n.846+79G>A | |
| ENST00000346424.6:c.107-2531G>A (AIFM1) | ENSP00000316320.3:n.107-2531G>A | |
| ENST00000416073.6:c.858+79G>A (AIFM1) | ENSP00000402535.2:n.858+79G>A | |
| ENST00000527892.5:c.*583+79G>A (AIFM1) | ENSP00000435955.1:n.*583+79G>A | |
| ENST00000533719.1:n.561+79G>A (AIFM1) | ||
| ENST00000535724.5:c.858+79G>A (AIFM1) | ENSP00000446113.2:n.858+79G>A | |
| NM_001130847.3:c.858+79G>A (AIFM1) | NP_001124319.1:n.858+79G>A | |
| NM_004208.3:c.858+79G>A (AIFM1) | NP_004199.1:n.858+79G>A | |
| NM_145812.2:c.846+79G>A (AIFM1) | NP_665811.1:n.846+79G>A | |
| NM_145813.2:c.107-2531G>A (AIFM1) | NP_665812.1:n.107-2531G>A | |
| NR_132647.1:n.946+79G>A (AIFM1) | ||
| XM_017029963.2:c.30+22331C>T (RAB33A) | XP_016885452.1:n.30+22331C>T | |
| NM_004208.4:c.858+79G>A (AIFM1) MANE Select | NP_004199.1:n.858+79G>A | |
| NM_001130847.4:c.858+79G>A (AIFM1) | NP_001124319.1:n.858+79G>A | |
| NM_145812.3:c.846+79G>A (AIFM1) | NP_665811.1:n.846+79G>A | |
| NR_132647.2:n.900+79G>A (AIFM1) |