Linked Data
ClinVar Variation Id:
510745
ClinVar RCV Id:
RCV000616545
dbSNP Id:
rs368257034
ExAC:
5:132202543 C / T
gnomAD v2:
5-132202543-C-T
gnomAD v3:
5-132866851-C-T
gnomAD v4:
5-132866851-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132866851C>T , CM000667.2:g.132866851C>T | GRCh38 |
| NC_000005.9:g.132202543C>T , CM000667.1:g.132202543C>T | GRCh37 |
| NC_000005.8:g.132230442C>T | NCBI36 |
| NG_012221.1:g.5225C>T | |
| NG_047051.1:g.5034G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624492.4:c.-284G>A (GDF9) | ENSP00000485037.1:n.-284G>A | |
| ENST00000378670.8:c.-13-18C>T (UQCRQ) MANE Select | ENSP00000367939.3:n.-13-18C>T | |
| ENST00000378665.1:c.-31C>T (UQCRQ) | ENSP00000367934.1:n.-31C>T | |
| ENST00000378667.1:c.-13-18C>T (UQCRQ) | ENSP00000367936.1:n.-13-18C>T | |
| ENST00000378670.7:c.-13-18C>T (UQCRQ) | ENSP00000367939.3:n.-13-18C>T | |
| ENST00000472320.1:n.34G>A (GDF9) | ||
| ENST00000480372.1:n.36-18C>T (UQCRQ) | ||
| ENST00000496429.1:n.46+164C>T (UQCRQ) | ||
| ENST00000498309.1:n.56-18C>T (UQCRQ) | ||
| ENST00000621295.4:c.-400G>A (GDF9) | ENSP00000484339.1:n.-400G>A | |
| ENST00000624492.3:c.-284G>A (GDF9) | ENSP00000485037.1:n.-284G>A | |
| NM_001288824.2:c.-284G>A (GDF9) | NP_001275753.1:n.-284G>A | |
| NM_001288825.2:c.-400G>A (GDF9) | NP_001275754.1:n.-400G>A | |
| NM_014402.4:c.-13-18C>T (UQCRQ) | NP_055217.2:n.-13-18C>T | |
| NM_014402.5:c.-13-18C>T (UQCRQ) MANE Select | NP_055217.2:n.-13-18C>T |