Linked Data
dbSNP Id:
rs1478729221
gnomAD v2:
17-6900315-C-T
gnomAD v3:
17-6996996-C-T
gnomAD v4:
17-6996996-C-T
COSMIC:
COSM4645286
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6996996C>T , CM000679.2:g.6996996C>T | GRCh38 |
| NC_000017.10:g.6900315C>T , CM000679.1:g.6900315C>T | GRCh37 |
| NC_000017.9:g.6841039C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251535.11:c.306C>T (ALOX12) MANE Select | ENSP00000251535.6:p.Gly102= | |
| ENST00000251535.10:c.306C>T (ALOX12) | ENSP00000251535.6:p.Gly102= | |
| ENST00000480801.1:c.15C>T (ALOX12) | ENSP00000467033.1:p.Gly5= | |
| NM_000697.2:c.306C>T (ALOX12) | NP_000688.2:p.Gly102= | |
| NR_040089.1:n.234-11456G>A (ALOX12-AS1) | ||
| XM_011523780.1:c.663C>T (ALOX12) | XP_011522082.1:p.Gly221= | |
| XM_011523780.2:c.663C>T (ALOX12) | XP_011522082.1:p.Gly221= | |
| NM_000697.3:c.306C>T (ALOX12) MANE Select | NP_000688.2:p.Gly102= |