Linked Data
dbSNP Id:
rs1053183
gnomAD v2:
1-241758631-A-G
gnomAD v3:
1-241595329-A-G
gnomAD v4:
1-241595329-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241595329A>G , CM000663.2:g.241595329A>G | GRCh38 |
| NC_000001.10:g.241758631A>G , CM000663.1:g.241758631A>G | GRCh37 |
| NC_000001.9:g.239825254A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366554.3:c.946-638T>C (OPN3) MANE Select | ENSP00000355512.2:n.946-638T>C | |
| ENST00000366559.9:c.*3176A>G (KMO) MANE Select | ENSP00000355517.4:n.*3176A>G | |
| ENST00000366554.2:c.946-638T>C (OPN3) | ENSP00000355512.2:n.946-638T>C | |
| ENST00000366557.8:c.*3176A>G (KMO) | ENSP00000355515.4:n.*3176A>G | |
| ENST00000366559.8:c.*3176A>G (KMO) | ENSP00000355517.4:n.*3176A>G | |
| ENST00000462265.5:n.625+2417T>C (OPN3) | ||
| ENST00000463155.5:n.327-638T>C (OPN3) | ||
| ENST00000469376.5:n.872-638T>C (OPN3) | ||
| ENST00000478849.1:n.787-638T>C (OPN3) | ||
| ENST00000490673.5:n.727-638T>C (OPN3) | ||
| NM_003679.4:c.*3176A>G (KMO) | NP_003670.2:n.*3176A>G | |
| NM_014322.2:c.946-638T>C (OPN3) | NP_055137.2:n.946-638T>C | |
| NM_003679.5:c.*3176A>G (KMO) MANE Select | NP_003670.2:n.*3176A>G | |
| NM_014322.3:c.946-638T>C (OPN3) MANE Select | NP_055137.2:n.946-638T>C |