Linked Data
ClinVar Variation Id:
2688094
ClinVar RCV Id:
RCV003489003
dbSNP Id:
rs9282801
gnomAD v2:
17-26096473-C-A
gnomAD v3:
17-27769447-C-A
gnomAD v4:
17-27769447-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27769447C>A , CM000679.2:g.27769447C>A | GRCh38 |
| NC_000017.10:g.26096473C>A , CM000679.1:g.26096473C>A | GRCh37 |
| NC_000017.9:g.23120600C>A | NCBI36 |
| NG_011470.1:g.36083G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697337.1:c.*2595+88G>T | ENSP00000513259.1:n.*2595+88G>T | |
| ENST00000697338.1:c.1707+88G>T | ENSP00000513260.1:n.1707+88G>T | |
| ENST00000697339.1:c.893+88G>T | ENSP00000513261.1:n.893+88G>T | |
| ENST00000697340.1:c.*576+88G>T | ENSP00000513262.1:n.*576+88G>T | |
| ENST00000697341.1:n.1829+88G>T | ||
| ENST00000313735.11:c.1859+88G>T MANE Select | ENSP00000327251.6:n.1859+88G>T | |
| ENST00000646938.1:c.1856+88G>T | ENSP00000494870.1:n.1856+88G>T | |
| ENST00000313735.10:c.1859+88G>T | ENSP00000327251.6:n.1859+88G>T | |
| ENST00000621962.1:c.1742+88G>T | ENSP00000482291.1:n.1742+88G>T | |
| NM_000625.4:c.1859+88G>T MANE Select | NP_000616.3:n.1859+88G>T | |
| XM_011524859.1:c.1859+88G>T | XP_011523161.1:n.1859+88G>T | |
| XM_011524860.1:c.1856+88G>T | XP_011523162.1:n.1856+88G>T | |
| XM_011524861.1:c.1859+88G>T | XP_011523163.1:n.1859+88G>T | |
| XM_011524862.1:c.1193+88G>T | XP_011523164.1:n.1193+88G>T |