Linked Data
ClinVar Variation Id:
261824
ClinVar RCV Id:
RCV000249173
dbSNP Id:
rs758554678
ExAC:
12:88442917 A / T
gnomAD v2:
12-88442917-A-T
gnomAD v3:
12-88049140-A-T
gnomAD v4:
12-88049140-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88049140A>T , CM000674.2:g.88049140A>T | GRCh38 |
| NC_000012.11:g.88442917A>T , CM000674.1:g.88442917A>T | GRCh37 |
| NC_000012.10:g.86967048A>T | NCBI36 |
| NG_008417.1:g.98077T>A | |
| NG_008417.2:g.98077T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.*44T>A (CEP290) | ENSP00000308021.8:n.*44T>A | |
| ENST00000356891.4:c.*718A>T (RLIG1) MANE Select | ENSP00000349358.3:n.*718A>T | |
| ENST00000547691.8:c.4453T>A (CEP290) | ||
| ENST00000552810.6:c.*44T>A (CEP290) MANE Select | ENSP00000448012.1:n.*44T>A | |
| ENST00000671777.2:n.1263T>A (CEP290) | ||
| ENST00000672414.2:c.*5490T>A (CEP290) | ENSP00000500729.1:n.*5490T>A | |
| ENST00000672647.1:n.5844T>A (CEP290) | ||
| ENST00000673058.2:c.*44T>A (CEP290) | ENSP00000500665.2:n.*44T>A | |
| ENST00000674712.1:n.1011T>A (CEP290) | ||
| ENST00000674889.1:n.4437T>A (CEP290) | ||
| ENST00000674971.1:c.*441T>A (CEP290) | ENSP00000502194.1:n.*441T>A | |
| ENST00000675230.1:c.*44T>A (CEP290) | ENSP00000502503.1:n.*44T>A | |
| ENST00000675408.1:c.*44T>A (CEP290) | ENSP00000502298.1:n.*44T>A | |
| ENST00000675476.1:c.*44T>A (CEP290) | ENSP00000502161.1:n.*44T>A | |
| ENST00000675628.1:n.9466T>A (CEP290) | ||
| ENST00000675794.1:c.*5655T>A (CEP290) | ENSP00000502841.1:n.*5655T>A | |
| ENST00000675833.1:c.*44T>A (CEP290) | ENSP00000502559.1:n.*44T>A | |
| ENST00000675894.1:n.3789T>A (CEP290) | ||
| ENST00000676074.1:c.*441T>A (CEP290) | ENSP00000502079.1:n.*441T>A | |
| ENST00000676181.1:n.8167T>A (CEP290) | ||
| ENST00000676190.1:n.3678T>A (CEP290) | ||
| ENST00000676363.1:n.13210T>A (CEP290) | ||
| ENST00000309041.11:c.7490T>A (CEP290) | ENSP00000308021.7:n.7490T>A | |
| ENST00000356891.3:c.*718A>T (RLIG1) | ENSP00000349358.3:n.*718A>T | |
| ENST00000547691.6:c.*44T>A (CEP290) | ENSP00000446905.1:n.*44T>A | |
| ENST00000550333.5:c.*1461A>T (RLIG1) | ENSP00000448194.1:n.*1461A>T | |
| ENST00000552121.5:c.*1263A>T (RLIG1) | ENSP00000447327.1:n.*1263A>T | |
| ENST00000552810.5:c.*44T>A (CEP290) | ENSP00000448012.1:n.*44T>A | |
| NM_001009894.2:c.*718A>T (RLIG1) | NP_001009894.2:n.*718A>T | |
| NM_025114.3:c.*44T>A (CEP290) | NP_079390.3:n.*44T>A | |
| XM_011538756.1:c.*44T>A (CEP290) | XP_011537058.1:n.*44T>A | |
| XM_011538757.1:c.*44T>A (CEP290) | XP_011537059.1:n.*44T>A | |
| XM_011538758.1:c.*44T>A (CEP290) | XP_011537060.1:n.*44T>A | |
| XM_011538759.1:c.*44T>A (CEP290) | XP_011537061.1:n.*44T>A | |
| XM_011538760.1:c.*44T>A (CEP290) | XP_011537062.1:n.*44T>A | |
| XM_011538761.1:c.*44T>A (CEP290) | XP_011537063.1:n.*44T>A | |
| XM_011538762.1:c.*44T>A (CEP290) | XP_011537064.1:n.*44T>A | |
| XM_011538763.1:c.*44T>A (CEP290) | XP_011537065.1:n.*44T>A | |
| XM_011538766.1:c.*44T>A (CEP290) | XP_011537068.1:n.*44T>A | |
| XM_011538756.3:c.*44T>A (CEP290) | XP_011537058.1:n.*44T>A | |
| XM_011538757.3:c.*44T>A (CEP290) | XP_011537059.1:n.*44T>A | |
| XM_011538758.3:c.*44T>A (CEP290) | XP_011537060.1:n.*44T>A | |
| XM_011538759.2:c.*44T>A (CEP290) | XP_011537061.1:n.*44T>A | |
| XM_011538760.2:c.*44T>A (CEP290) | XP_011537062.1:n.*44T>A | |
| XM_011538761.2:c.*44T>A (CEP290) | XP_011537063.1:n.*44T>A | |
| XM_011538762.3:c.*44T>A (CEP290) | XP_011537064.1:n.*44T>A | |
| XM_011538763.3:c.*44T>A (CEP290) | XP_011537065.1:n.*44T>A | |
| XM_011538766.3:c.*44T>A (CEP290) | XP_011537068.1:n.*44T>A | |
| XM_017019980.2:c.*44T>A (CEP290) | XP_016875469.1:n.*44T>A | |
| XM_017019981.2:c.*44T>A (CEP290) | XP_016875470.1:n.*44T>A | |
| XM_017019983.2:c.*44T>A (CEP290) | XP_016875472.1:n.*44T>A | |
| NM_001009894.3:c.*718A>T (RLIG1) MANE Select | NP_001009894.2:n.*718A>T | |
| NM_025114.4:c.*44T>A (CEP290) MANE Select | NP_079390.3:n.*44T>A |