Linked Data
dbSNP Id:
rs764359028
ExAC:
17:6905035 G / A
gnomAD v2:
17-6905035-G-A
gnomAD v4:
17-7001716-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7001716G>A , CM000679.2:g.7001716G>A | GRCh38 |
| NC_000017.10:g.6905035G>A , CM000679.1:g.6905035G>A | GRCh37 |
| NC_000017.9:g.6845759G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251535.11:c.1066G>A (ALOX12) MANE Select | ENSP00000251535.6:p.Glu356Lys | |
| ENST00000251535.10:c.1066G>A (ALOX12) | ENSP00000251535.6:p.Glu356Lys | |
| NM_000697.2:c.1066G>A (ALOX12) | NP_000688.2:p.Glu356Lys | |
| NR_040089.1:n.233+8080C>T (ALOX12-AS1) | ||
| XM_011523780.1:c.1216G>A (ALOX12) | XP_011522082.1:p.Glu406Lys | |
| XM_011523780.2:c.1216G>A (ALOX12) | XP_011522082.1:p.Glu406Lys | |
| NM_000697.3:c.1066G>A (ALOX12) MANE Select | NP_000688.2:p.Glu356Lys |