Linked Data
gnomAD v4:
17-7001606-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7001606A>G , CM000679.2:g.7001606A>G | GRCh38 |
| NC_000017.10:g.6904925A>G , CM000679.1:g.6904925A>G | GRCh37 |
| NC_000017.9:g.6845649A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251535.11:c.956A>G (ALOX12) MANE Select | ENSP00000251535.6:p.Gln319Arg | |
| ENST00000251535.10:c.956A>G (ALOX12) | ENSP00000251535.6:p.Gln319Arg | |
| NM_000697.2:c.956A>G (ALOX12) | NP_000688.2:p.Gln319Arg | |
| NR_040089.1:n.233+8190T>C (ALOX12-AS1) | ||
| XM_011523780.1:c.1106A>G (ALOX12) | XP_011522082.1:p.Gln369Arg | |
| XM_011523780.2:c.1106A>G (ALOX12) | XP_011522082.1:p.Gln369Arg | |
| NM_000697.3:c.956A>G (ALOX12) MANE Select | NP_000688.2:p.Gln319Arg |