Linked Data
dbSNP Id:
rs753021260
ExAC:
17:6905087 T / C
gnomAD v2:
17-6905087-T-C
gnomAD v3:
17-7001768-T-C
gnomAD v4:
17-7001768-T-C
MyVariant Identifiers:
chr17:g.6905087T>C (hg19)
chr17:g.6905087_6905088delinsCC (hg19)
chr17:g.7001768T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7001768T>C , CM000679.2:g.7001768T>C | GRCh38 |
| NC_000017.10:g.6905087T>C , CM000679.1:g.6905087T>C | GRCh37 |
| NC_000017.9:g.6845811T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251535.11:c.1118T>C (ALOX12) MANE Select | ENSP00000251535.6:p.Val373Ala | |
| ENST00000251535.10:c.1118T>C (ALOX12) | ENSP00000251535.6:p.Val373Ala | |
| NM_000697.2:c.1118T>C (ALOX12) | NP_000688.2:p.Val373Ala | |
| NR_040089.1:n.233+8028A>G (ALOX12-AS1) | ||
| XM_011523780.1:c.1268T>C (ALOX12) | XP_011522082.1:p.Val423Ala | |
| XM_011523780.2:c.1268T>C (ALOX12) | XP_011522082.1:p.Val423Ala | |
| NM_000697.3:c.1118T>C (ALOX12) MANE Select | NP_000688.2:p.Val373Ala |