Linked Data
dbSNP Id:
rs1250369474
gnomAD v2:
17-6905183-AG-A
gnomAD v3:
17-7001864-AG-A
gnomAD v4:
17-7001864-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7001865del , CM000679.2:g.7001865del | GRCh38 |
| NC_000017.10:g.6905184del , CM000679.1:g.6905184del | GRCh37 |
| NC_000017.9:g.6845908del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251535.11:c.1161+54del (ALOX12) MANE Select | ENSP00000251535.6:n.1161+54del | |
| ENST00000251535.10:c.1161+54del (ALOX12) | ENSP00000251535.6:n.1161+54del | |
| NM_000697.2:c.1161+54del (ALOX12) | NP_000688.2:n.1161+54del | |
| NR_040089.1:n.233+7931del (ALOX12-AS1) | ||
| XM_011523780.1:c.1311+54del (ALOX12) | XP_011522082.1:n.1311+54del | |
| XM_011523780.2:c.1311+54del (ALOX12) | XP_011522082.1:n.1311+54del | |
| NM_000697.3:c.1161+54del (ALOX12) MANE Select | NP_000688.2:n.1161+54del |