Linked Data
ClinVar Variation Id:
2575661
ClinVar RCV Id:
RCV003321227
dbSNP Id:
rs1463695782
gnomAD v2:
5-121405793-C-T
gnomAD v4:
5-122070098-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.122070098C>T , CM000667.2:g.122070098C>T | GRCh38 |
| NC_000005.9:g.121405793C>T , CM000667.1:g.121405793C>T | GRCh37 |
| NC_000005.8:g.121433692C>T | NCBI36 |
| NG_008722.1:g.13263G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231004.5:c.1202G>A (LOX) MANE Select | ENSP00000231004.4:p.Arg401His | |
| ENST00000639739.2:c.*394G>A (LOX) | ENSP00000492324.2:n.*394G>A | |
| ENST00000231004.4:c.1202G>A (LOX) | ENSP00000231004.4:p.Arg401His | |
| ENST00000503759.5:n.793G>A (LOX) | ||
| ENST00000504881.1:n.312-5217C>T (SRFBP1) | ||
| ENST00000505593.5:n.528G>A (LOX) | ||
| ENST00000513319.5:n.545G>A (LOX) | ||
| NM_001178102.1:c.512G>A (LOX) | NP_001171573.1:p.Arg171His | |
| NM_001178102.2:c.512G>A (LOX) | NP_001171573.1:p.Arg171His | |
| NM_001317073.1:c.311G>A (LOX) | NP_001304002.1:p.Arg104His | |
| NM_002317.5:c.1202G>A (LOX) | NP_002308.2:p.Arg401His | |
| NM_002317.6:c.1202G>A (LOX) | NP_002308.2:p.Arg401His | |
| XM_017009111.2:c.1106-5217C>T (SRFBP1) | XP_016864600.2:n.1106-5217C>T | |
| NM_002317.7:c.1202G>A (LOX) MANE Select | NP_002308.2:p.Arg401His |