Linked Data
dbSNP Id:
rs16958477
gnomAD v2:
15-74218466-A-C
gnomAD v3:
15-73926125-A-C
gnomAD v4:
15-73926125-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73926125A>C , CM000677.2:g.73926125A>C | GRCh38 |
| NC_000015.9:g.74218466A>C , CM000677.1:g.74218466A>C | GRCh37 |
| NC_000015.8:g.72005519A>C | NCBI36 |
| NG_011466.1:g.4678A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000566011.5:c.-659A>C (LOXL1) | ENSP00000457827.1:n.-659A>C | |
| NR_040066.1:n.134-620T>G (LOXL1-AS1) | ||
| NR_040067.1:n.134-620T>G (LOXL1-AS1) | ||
| NR_040068.1:n.184+1940T>G (LOXL1-AS1) | ||
| NR_040069.1:n.184+1940T>G (LOXL1-AS1) | ||
| NR_040070.1:n.184+1652T>G (LOXL1-AS1) |