Linked Data
ClinVar Variation Id:
321985
ClinVar RCV Id:
RCV000291680
dbSNP Id:
rs189970612
ExAC:
17:15932722 T / C
gnomAD v2:
17-15932722-T-C
gnomAD v3:
17-16029408-T-C
gnomAD v4:
17-16029408-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16029408T>C , CM000679.2:g.16029408T>C | GRCh38 |
| NC_000017.10:g.15932722T>C , CM000679.1:g.15932722T>C | GRCh37 |
| NC_000017.9:g.15873447T>C | NCBI36 |
| NG_029806.1:g.35029T>C | |
| NG_047111.1:g.192339A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000436068.2:c.*2888A>G (NCOR1) | ENSP00000389839.2:n.*2888A>G | |
| ENST00000704743.1:n.9159A>G (NCOR1) | ||
| ENST00000704744.1:c.*2888A>G (NCOR1) | ENSP00000516021.1:n.*2888A>G | |
| ENST00000704745.1:c.*2888A>G (NCOR1) | ENSP00000516022.1:n.*2888A>G | |
| ENST00000268712.8:c.*2888A>G (NCOR1) MANE Select | ENSP00000268712.2:n.*2888A>G | |
| ENST00000268712.7:c.*2888A>G (NCOR1) | ENSP00000268712.2:n.*2888A>G | |
| ENST00000470649.1:c.247+2706T>C (TTC19) | ENSP00000465627.1:n.247+2706T>C | |
| NM_001271420.1:c.*1886T>C (TTC19) | NP_001258349.1:n.*1886T>C | |
| NM_017775.3:c.*1886T>C (TTC19) | NP_060245.3:n.*1886T>C | |
| XM_017024801.2:c.994+2706T>C (TTC19) | XP_016880290.2:n.994+2706T>C | |
| XM_017024802.2:c.994+2706T>C (TTC19) | XP_016880291.2:n.994+2706T>C | |
| NM_006311.4:c.*2888A>G (NCOR1) MANE Select | NP_006302.2:n.*2888A>G |