Linked Data
dbSNP Id:
rs12594375
gnomAD v2:
15-58732468-G-A
gnomAD v3:
15-58440269-G-A
gnomAD v4:
15-58440269-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58440269G>A , CM000677.2:g.58440269G>A | GRCh38 |
| NC_000015.9:g.58732468G>A , CM000677.1:g.58732468G>A | GRCh37 |
| NC_000015.8:g.56519760G>A | NCBI36 |
| NG_011465.1:g.13294G>A | |
| NG_011465.2:g.13294G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299022.10:c.88+8149G>A (LIPC) MANE Select | ENSP00000299022.5:n.88+8149G>A | |
| ENST00000299022.9:c.88+8149G>A (LIPC) | ENSP00000299022.5:n.88+8149G>A | |
| ENST00000356113.10:c.88+8149G>A (LIPC) | ENSP00000348425.6:n.88+8149G>A | |
| ENST00000414170.7:c.88+8149G>A (LIPC) | ENSP00000395569.3:n.88+8149G>A | |
| ENST00000433326.2:c.88+8149G>A (LIPC) | ENSP00000395002.2:n.88+8149G>A | |
| ENST00000558239.5:c.-306-20164C>T (ALDH1A2) | ENSP00000453292.1:n.-306-20164C>T | |
| ENST00000559845.5:n.130+8149G>A (LIPC) | ||
| ENST00000560863.5:n.281-20164C>T (ALDH1A2) | ||
| NM_000236.2:c.88+8149G>A (LIPC) | NP_000227.2:n.88+8149G>A | |
| NR_120338.1:n.209-3357C>T (LIPC-AS1) | ||
| XM_005254372.1:c.88+8149G>A (LIPC) | XP_005254429.1:n.88+8149G>A | |
| XM_011521551.1:c.88+8149G>A (LIPC) | XP_011519853.1:n.88+8149G>A | |
| XM_024449916.1:c.88+8149G>A (LIPC) | XP_024305684.1:n.88+8149G>A | |
| XM_024449917.1:c.88+8149G>A (LIPC) | XP_024305685.1:n.88+8149G>A | |
| NM_000236.3:c.88+8149G>A (LIPC) MANE Select | NP_000227.2:n.88+8149G>A |