Linked Data
dbSNP Id:
rs765160143
ExAC:
17:6904902 T / TG
gnomAD v2:
17-6904902-T-TG
gnomAD v4:
17-7001583-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7001583_7001584insG , CM000679.2:g.7001583_7001584insG | GRCh38 |
| NC_000017.10:g.6904902_6904903insG , CM000679.1:g.6904902_6904903insG | GRCh37 |
| NC_000017.9:g.6845626_6845627insG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251535.11:c.952-19_952-18insG (ALOX12) MANE Select | ENSP00000251535.6:n.952-19_952-18insG | |
| ENST00000251535.10:c.952-19_952-18insG (ALOX12) | ENSP00000251535.6:n.952-19_952-18insG | |
| NM_000697.2:c.952-19_952-18insG (ALOX12) | NP_000688.2:n.952-19_952-18insG | |
| NR_040089.1:n.233+8212_233+8213insC (ALOX12-AS1) | ||
| XM_011523780.1:c.1102-19_1102-18insG (ALOX12) | XP_011522082.1:n.1102-19_1102-18insG | |
| XM_011523780.2:c.1102-19_1102-18insG (ALOX12) | XP_011522082.1:n.1102-19_1102-18insG | |
| NM_000697.3:c.952-19_952-18insG (ALOX12) MANE Select | NP_000688.2:n.952-19_952-18insG |