Linked Data
dbSNP Id:
rs183466632
ExAC:
17:6904979 C / T
gnomAD v2:
17-6904979-C-T
gnomAD v3:
17-7001660-C-T
gnomAD v4:
17-7001660-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7001660C>T , CM000679.2:g.7001660C>T | GRCh38 |
| NC_000017.10:g.6904979C>T , CM000679.1:g.6904979C>T | GRCh37 |
| NC_000017.9:g.6845703C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251535.11:c.1010C>T (ALOX12) MANE Select | ENSP00000251535.6:p.Pro337Leu | |
| ENST00000251535.10:c.1010C>T (ALOX12) | ENSP00000251535.6:p.Pro337Leu | |
| NM_000697.2:c.1010C>T (ALOX12) | NP_000688.2:p.Pro337Leu | |
| NR_040089.1:n.233+8136G>A (ALOX12-AS1) | ||
| XM_011523780.1:c.1160C>T (ALOX12) | XP_011522082.1:p.Pro387Leu | |
| XM_011523780.2:c.1160C>T (ALOX12) | XP_011522082.1:p.Pro387Leu | |
| NM_000697.3:c.1010C>T (ALOX12) MANE Select | NP_000688.2:p.Pro337Leu |