Linked Data
dbSNP Id:
rs1908462768
gnomAD v4:
17-6996831-G-A
MyVariant Identifiers:
chr17:g.6900150G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6996831G>A , CM000679.2:g.6996831G>A | GRCh38 |
| NC_000017.10:g.6900150G>A , CM000679.1:g.6900150G>A | GRCh37 |
| NC_000017.9:g.6840874G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251535.11:c.141G>A (ALOX12) MANE Select | ENSP00000251535.6:p.Glu47= | |
| ENST00000251535.10:c.141G>A (ALOX12) | ENSP00000251535.6:p.Glu47= | |
| NM_000697.2:c.141G>A (ALOX12) | NP_000688.2:p.Glu47= | |
| NR_040089.1:n.234-11291C>T (ALOX12-AS1) | ||
| XM_011523780.1:c.498G>A (ALOX12) | XP_011522082.1:p.Glu166= | |
| XM_011523780.2:c.498G>A (ALOX12) | XP_011522082.1:p.Glu166= | |
| NM_000697.3:c.141G>A (ALOX12) MANE Select | NP_000688.2:p.Glu47= |