Linked Data
dbSNP Id:
rs1266751266
gnomAD v2:
17-6900308-T-C
gnomAD v3:
17-6996989-T-C
gnomAD v4:
17-6996989-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6996989T>C , CM000679.2:g.6996989T>C | GRCh38 |
| NC_000017.10:g.6900308T>C , CM000679.1:g.6900308T>C | GRCh37 |
| NC_000017.9:g.6841032T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251535.11:c.299T>C (ALOX12) MANE Select | ENSP00000251535.6:p.Val100Ala | |
| ENST00000251535.10:c.299T>C (ALOX12) | ENSP00000251535.6:p.Val100Ala | |
| ENST00000480801.1:c.8T>C (ALOX12) | ENSP00000467033.1:p.Val3Ala | |
| NM_000697.2:c.299T>C (ALOX12) | NP_000688.2:p.Val100Ala | |
| NR_040089.1:n.234-11449A>G (ALOX12-AS1) | ||
| XM_011523780.1:c.656T>C (ALOX12) | XP_011522082.1:p.Val219Ala | |
| XM_011523780.2:c.656T>C (ALOX12) | XP_011522082.1:p.Val219Ala | |
| NM_000697.3:c.299T>C (ALOX12) MANE Select | NP_000688.2:p.Val100Ala |