Linked Data
ClinVar Variation Id:
310585
ClinVar RCV Id:
RCV000280658
RCV000286608
RCV000339178
RCV000378693
RCV000401265
RCV001410302
RCV004537747
dbSNP Id:
rs765709669
ExAC:
12:88443036 T / C
gnomAD v2:
12-88443036-T-C
gnomAD v3:
12-88049259-T-C
gnomAD v4:
12-88049259-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88049259T>C , CM000674.2:g.88049259T>C | GRCh38 |
| NC_000012.11:g.88443036T>C , CM000674.1:g.88443036T>C | GRCh37 |
| NC_000012.10:g.86967167T>C | NCBI36 |
| NG_008417.1:g.97958A>G | |
| NG_008417.2:g.97958A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.7374A>G (CEP290) | ENSP00000308021.8:p.Glu2458= | |
| ENST00000356891.4:c.*837T>C (RLIG1) MANE Select | ENSP00000349358.3:n.*837T>C | |
| ENST00000547691.8:c.4334A>G (CEP290) | ||
| ENST00000552810.6:c.7365A>G (CEP290) MANE Select | ENSP00000448012.1:p.Glu2455= | |
| ENST00000671777.2:n.1144A>G (CEP290) | ||
| ENST00000672414.2:c.*5371A>G (CEP290) | ENSP00000500729.1:n.*5371A>G | |
| ENST00000672647.1:n.5725A>G (CEP290) | ||
| ENST00000673058.2:c.7242A>G (CEP290) | ENSP00000500665.2:p.Glu2414= | |
| ENST00000674712.1:n.892A>G (CEP290) | ||
| ENST00000674889.1:n.4318A>G (CEP290) | ||
| ENST00000674971.1:c.*322A>G (CEP290) | ENSP00000502194.1:n.*322A>G | |
| ENST00000675230.1:c.7344A>G (CEP290) | ENSP00000502503.1:p.Glu2448= | |
| ENST00000675408.1:c.7200A>G (CEP290) | ENSP00000502298.1:p.Glu2400= | |
| ENST00000675476.1:c.8226A>G (CEP290) | ENSP00000502161.1:p.Glu2742= | |
| ENST00000675628.1:n.9347A>G (CEP290) | ||
| ENST00000675794.1:c.*5536A>G (CEP290) | ENSP00000502841.1:n.*5536A>G | |
| ENST00000675833.1:c.8133A>G (CEP290) | ENSP00000502559.1:p.Glu2711= | |
| ENST00000675894.1:n.3670A>G (CEP290) | ||
| ENST00000676074.1:c.*322A>G (CEP290) | ENSP00000502079.1:n.*322A>G | |
| ENST00000676181.1:n.8048A>G (CEP290) | ||
| ENST00000676190.1:n.3559A>G (CEP290) | ||
| ENST00000676363.1:n.13091A>G (CEP290) | ||
| ENST00000309041.11:c.7371A>G (CEP290) | ENSP00000308021.7:p.Glu2457= | |
| ENST00000356891.3:c.*837T>C (RLIG1) | ENSP00000349358.3:n.*837T>C | |
| ENST00000547691.6:c.4545A>G (CEP290) | ENSP00000446905.1:p.Glu1515= | |
| ENST00000550333.5:c.*1580T>C (RLIG1) | ENSP00000448194.1:n.*1580T>C | |
| ENST00000552810.5:c.7365A>G (CEP290) | ENSP00000448012.1:p.Glu2455= | |
| NM_001009894.2:c.*837T>C (RLIG1) | NP_001009894.2:n.*837T>C | |
| NM_025114.3:c.7365A>G (CEP290) | NP_079390.3:p.Glu2455= | |
| XM_011538756.1:c.8235A>G (CEP290) | XP_011537058.1:p.Glu2745= | |
| XM_011538757.1:c.8235A>G (CEP290) | XP_011537059.1:p.Glu2745= | |
| XM_011538758.1:c.8232A>G (CEP290) | XP_011537060.1:p.Glu2744= | |
| XM_011538759.1:c.8226A>G (CEP290) | XP_011537061.1:p.Glu2742= | |
| XM_011538760.1:c.8112A>G (CEP290) | XP_011537062.1:p.Glu2704= | |
| XM_011538761.1:c.8070A>G (CEP290) | XP_011537063.1:p.Glu2690= | |
| XM_011538762.1:c.7467A>G (CEP290) | XP_011537064.1:p.Glu2489= | |
| XM_011538763.1:c.7374A>G (CEP290) | XP_011537065.1:p.Glu2458= | |
| XM_011538766.1:c.6696A>G (CEP290) | XP_011537068.1:p.Glu2232= | |
| XM_011538756.3:c.8235A>G (CEP290) | XP_011537058.1:p.Glu2745= | |
| XM_011538757.3:c.8235A>G (CEP290) | XP_011537059.1:p.Glu2745= | |
| XM_011538758.3:c.8232A>G (CEP290) | XP_011537060.1:p.Glu2744= | |
| XM_011538759.2:c.8226A>G (CEP290) | XP_011537061.1:p.Glu2742= | |
| XM_011538760.2:c.8112A>G (CEP290) | XP_011537062.1:p.Glu2704= | |
| XM_011538761.2:c.8070A>G (CEP290) | XP_011537063.1:p.Glu2690= | |
| XM_011538762.3:c.7467A>G (CEP290) | XP_011537064.1:p.Glu2489= | |
| XM_011538763.3:c.7374A>G (CEP290) | XP_011537065.1:p.Glu2458= | |
| XM_011538766.3:c.6696A>G (CEP290) | XP_011537068.1:p.Glu2232= | |
| XM_017019980.2:c.8103A>G (CEP290) | XP_016875469.1:p.Glu2701= | |
| XM_017019981.2:c.8061A>G (CEP290) | XP_016875470.1:p.Glu2687= | |
| XM_017019983.2:c.7353A>G (CEP290) | XP_016875472.1:p.Glu2451= | |
| NM_001009894.3:c.*837T>C (RLIG1) MANE Select | NP_001009894.2:n.*837T>C | |
| NM_025114.4:c.7365A>G (CEP290) MANE Select | NP_079390.3:p.Glu2455= |