Linked Data
dbSNP Id:
rs2303656
gnomAD v2:
5-121405976-G-T
gnomAD v3:
5-122070281-G-T
gnomAD v4:
5-122070281-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.122070281G>T , CM000667.2:g.122070281G>T | GRCh38 |
| NC_000005.9:g.121405976G>T , CM000667.1:g.121405976G>T | GRCh37 |
| NC_000005.8:g.121433875G>T | NCBI36 |
| NG_008722.1:g.13080C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000231004.5:c.1132-113C>A (LOX) MANE Select | ENSP00000231004.4:n.1132-113C>A | |
| ENST00000639739.2:c.*324-113C>A (LOX) | ENSP00000492324.2:n.*324-113C>A | |
| ENST00000231004.4:c.1132-113C>A (LOX) | ENSP00000231004.4:n.1132-113C>A | |
| ENST00000503759.5:n.723-113C>A (LOX) | ||
| ENST00000504881.1:n.312-5034G>T (SRFBP1) | ||
| ENST00000505593.5:n.458-113C>A (LOX) | ||
| ENST00000513319.5:n.475-113C>A (LOX) | ||
| NM_001178102.1:c.442-113C>A (LOX) | NP_001171573.1:n.442-113C>A | |
| NM_001178102.2:c.442-113C>A (LOX) | NP_001171573.1:n.442-113C>A | |
| NM_001317073.1:c.241-113C>A (LOX) | NP_001304002.1:n.241-113C>A | |
| NM_002317.5:c.1132-113C>A (LOX) | NP_002308.2:n.1132-113C>A | |
| NM_002317.6:c.1132-113C>A (LOX) | NP_002308.2:n.1132-113C>A | |
| XM_017009111.2:c.1106-5034G>T (SRFBP1) | XP_016864600.2:n.1106-5034G>T | |
| NM_002317.7:c.1132-113C>A (LOX) MANE Select | NP_002308.2:n.1132-113C>A |