Linked Data
ClinVar Variation Id:
304447
ClinVar RCV Id:
RCV000351901
dbSNP Id:
rs886048245
gnomAD v2:
11-34937845-G-A
gnomAD v4:
11-34916298-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34916298G>A , CM000673.2:g.34916298G>A | GRCh38 |
| NC_000011.9:g.34937845G>A , CM000673.1:g.34937845G>A | GRCh37 |
| NC_000011.8:g.34894421G>A | NCBI36 |
| NG_013368.1:g.5169G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448838.8:c.-209G>A (PDHX) | ENSP00000389404.3:n.-209G>A | |
| ENST00000395787.4:c.-14C>T (APIP) MANE Select | ENSP00000379133.3:n.-14C>T | |
| ENST00000395787.3:c.-14C>T (APIP) | ENSP00000379133.3:n.-14C>T | |
| ENST00000448838.7:c.-74G>A (PDHX) | ENSP00000389404.2:n.-74G>A | |
| ENST00000527830.1:n.54C>T (APIP) | ||
| ENST00000533550.5:c.-21+360G>A (PDHX) | ENSP00000431281.1:n.-21+360G>A | |
| NM_001135024.1:c.-74G>A (PDHX) | NP_001128496.1:n.-74G>A | |
| NM_001166158.1:c.-358G>A (PDHX) | NP_001159630.1:n.-358G>A | |
| NM_003477.2:c.-358G>A (PDHX) | NP_003468.2:n.-358G>A | |
| NM_015957.3:c.-14C>T (APIP) | NP_057041.2:n.-14C>T | |
| XM_011520154.1:c.-58C>T (APIP) | XP_011518456.1:n.-58C>T | |
| XM_011520390.1:c.-21+360G>A (PDHX) | XP_011518692.1:n.-21+360G>A | |
| XM_011520154.3:c.-58C>T (APIP) | XP_011518456.1:n.-58C>T | |
| XM_017017875.2:c.-371C>T (APIP) | XP_016873364.1:n.-371C>T | |
| NM_015957.4:c.-14C>T (APIP) MANE Select | NP_057041.2:n.-14C>T |