dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58431476C>G , CM000677.2:g.58431476C>G | GRCh38 |
| NC_000015.9:g.58723675C>G , CM000677.1:g.58723675C>G | GRCh37 |
| NC_000015.8:g.56510967C>G | NCBI36 |
| NG_011465.1:g.4501C>G | |
| NG_011465.2:g.4501C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356113.10:c.-41+325C>G (LIPC) | ENSP00000348425.6:n.-41+325C>G | |
| ENST00000414170.7:c.-40-517C>G (LIPC) | ENSP00000395569.3:n.-40-517C>G | |
| ENST00000558239.5:c.-306-11371G>C (ALDH1A2) | ENSP00000453292.1:n.-306-11371G>C | |
| ENST00000560257.1:n.563+325C>G (LIPC) | ||
| ENST00000560863.5:n.281-11371G>C (ALDH1A2) | ||
| XM_005254372.1:c.-40-517C>G (LIPC) | XP_005254429.1:n.-40-517C>G | |
| XM_011521551.1:c.-40-517C>G (LIPC) | XP_011519853.1:n.-40-517C>G | |
| XM_024449916.1:c.-41+325C>G (LIPC) | XP_024305684.1:n.-41+325C>G |