Linked Data
dbSNP Id:
rs771903250
ExAC:
17:6900196 G / C
gnomAD v2:
17-6900196-G-C
gnomAD v3:
17-6996877-G-C
gnomAD v4:
17-6996877-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6996877G>C , CM000679.2:g.6996877G>C | GRCh38 |
| NC_000017.10:g.6900196G>C , CM000679.1:g.6900196G>C | GRCh37 |
| NC_000017.9:g.6840920G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251535.11:c.187G>C (ALOX12) MANE Select | ENSP00000251535.6:p.Val63Leu | |
| ENST00000251535.10:c.187G>C (ALOX12) | ENSP00000251535.6:p.Val63Leu | |
| NM_000697.2:c.187G>C (ALOX12) | NP_000688.2:p.Val63Leu | |
| NR_040089.1:n.234-11337C>G (ALOX12-AS1) | ||
| XM_011523780.1:c.544G>C (ALOX12) | XP_011522082.1:p.Val182Leu | |
| XM_011523780.2:c.544G>C (ALOX12) | XP_011522082.1:p.Val182Leu | |
| NM_000697.3:c.187G>C (ALOX12) MANE Select | NP_000688.2:p.Val63Leu |