Linked Data
gnomAD v4:
17-7001593-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7001593T>C , CM000679.2:g.7001593T>C | GRCh38 |
| NC_000017.10:g.6904912T>C , CM000679.1:g.6904912T>C | GRCh37 |
| NC_000017.9:g.6845636T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251535.11:c.952-9T>C (ALOX12) MANE Select | ENSP00000251535.6:n.952-9T>C | |
| ENST00000251535.10:c.952-9T>C (ALOX12) | ENSP00000251535.6:n.952-9T>C | |
| NM_000697.2:c.952-9T>C (ALOX12) | NP_000688.2:n.952-9T>C | |
| NR_040089.1:n.233+8203A>G (ALOX12-AS1) | ||
| XM_011523780.1:c.1102-9T>C (ALOX12) | XP_011522082.1:n.1102-9T>C | |
| XM_011523780.2:c.1102-9T>C (ALOX12) | XP_011522082.1:n.1102-9T>C | |
| NM_000697.3:c.952-9T>C (ALOX12) MANE Select | NP_000688.2:n.952-9T>C |