Linked Data
dbSNP Id:
rs545528989
gnomAD v2:
17-6900072-G-T
gnomAD v3:
17-6996753-G-T
gnomAD v4:
17-6996753-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6996753G>T , CM000679.2:g.6996753G>T | GRCh38 |
| NC_000017.10:g.6900072G>T , CM000679.1:g.6900072G>T | GRCh37 |
| NC_000017.9:g.6840796G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251535.11:c.136-73G>T (ALOX12) MANE Select | ENSP00000251535.6:n.136-73G>T | |
| ENST00000251535.10:c.136-73G>T (ALOX12) | ENSP00000251535.6:n.136-73G>T | |
| NM_000697.2:c.136-73G>T (ALOX12) | NP_000688.2:n.136-73G>T | |
| NR_040089.1:n.234-11213C>A (ALOX12-AS1) | ||
| XM_011523780.1:c.493-73G>T (ALOX12) | XP_011522082.1:n.493-73G>T | |
| XM_011523780.2:c.493-73G>T (ALOX12) | XP_011522082.1:n.493-73G>T | |
| NM_000697.3:c.136-73G>T (ALOX12) MANE Select | NP_000688.2:n.136-73G>T |