Linked Data
dbSNP Id:
rs1053221
gnomAD v2:
1-241755567-T-C
gnomAD v3:
1-241592265-T-C
gnomAD v4:
1-241592265-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241592265T>C , CM000663.2:g.241592265T>C | GRCh38 |
| NC_000001.10:g.241755567T>C , CM000663.1:g.241755567T>C | GRCh37 |
| NC_000001.9:g.239822190T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366559.9:c.*112T>C (KMO) MANE Select | ENSP00000355517.4:n.*112T>C | |
| ENST00000366555.5:c.513+116T>C (KMO) | ||
| ENST00000366557.8:c.*112T>C (KMO) | ENSP00000355515.4:n.*112T>C | |
| ENST00000366558.7:c.*112T>C (KMO) | ENSP00000355516.3:n.*112T>C | |
| ENST00000366559.8:c.*112T>C (KMO) | ENSP00000355517.4:n.*112T>C | |
| ENST00000462265.5:n.626-145A>G (OPN3) | ||
| NM_003679.4:c.*112T>C (KMO) | NP_003670.2:n.*112T>C | |
| XM_005273337.1:c.*112T>C (KMO) | XP_005273394.1:n.*112T>C | |
| XM_005273338.2:c.*112T>C (KMO) | XP_005273395.1:n.*112T>C | |
| XM_005273338.3:c.*112T>C (KMO) | XP_005273395.1:n.*112T>C | |
| XM_017002649.1:c.*112T>C (KMO) | XP_016858138.1:n.*112T>C | |
| XM_017002650.1:c.*112T>C (KMO) | XP_016858139.1:n.*112T>C | |
| NM_003679.5:c.*112T>C (KMO) MANE Select | NP_003670.2:n.*112T>C |