Linked Data
ClinVar Variation Id:
1740768
ClinVar RCV Id:
RCV002328419
dbSNP Id:
rs1338346958
gnomAD v3:
5-122070124-G-A
gnomAD v4:
5-122070124-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.122070124G>A , CM000667.2:g.122070124G>A | GRCh38 |
| NC_000005.9:g.121405819G>A , CM000667.1:g.121405819G>A | GRCh37 |
| NC_000005.8:g.121433718G>A | NCBI36 |
| NG_008722.1:g.13237C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231004.5:c.1176C>T (LOX) MANE Select | ENSP00000231004.4:p.Thr392= | |
| ENST00000639739.2:c.*368C>T (LOX) | ENSP00000492324.2:n.*368C>T | |
| ENST00000231004.4:c.1176C>T (LOX) | ENSP00000231004.4:p.Thr392= | |
| ENST00000503759.5:n.767C>T (LOX) | ||
| ENST00000504881.1:n.312-5191G>A (SRFBP1) | ||
| ENST00000505593.5:n.502C>T (LOX) | ||
| ENST00000513319.5:n.519C>T (LOX) | ||
| NM_001178102.1:c.486C>T (LOX) | NP_001171573.1:p.Thr162= | |
| NM_001178102.2:c.486C>T (LOX) | NP_001171573.1:p.Thr162= | |
| NM_001317073.1:c.285C>T (LOX) | NP_001304002.1:p.Thr95= | |
| NM_002317.5:c.1176C>T (LOX) | NP_002308.2:p.Thr392= | |
| NM_002317.6:c.1176C>T (LOX) | NP_002308.2:p.Thr392= | |
| XM_017009111.2:c.1106-5191G>A (SRFBP1) | XP_016864600.2:n.1106-5191G>A | |
| NM_002317.7:c.1176C>T (LOX) MANE Select | NP_002308.2:p.Thr392= |