Linked Data
dbSNP Id:
rs1077835
gnomAD v2:
15-58723426-A-G
gnomAD v3:
15-58431227-A-G
gnomAD v4:
15-58431227-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58431227A>G , CM000677.2:g.58431227A>G | GRCh38 |
| NC_000015.9:g.58723426A>G , CM000677.1:g.58723426A>G | GRCh37 |
| NC_000015.8:g.56510718A>G | NCBI36 |
| NG_011465.1:g.4252A>G | |
| NG_011465.2:g.4252A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356113.10:c.-41+76A>G (LIPC) | ENSP00000348425.6:n.-41+76A>G | |
| ENST00000414170.7:c.-40-766A>G (LIPC) | ENSP00000395569.3:n.-40-766A>G | |
| ENST00000558239.5:c.-306-11122T>C (ALDH1A2) | ENSP00000453292.1:n.-306-11122T>C | |
| ENST00000560257.1:n.563+76A>G (LIPC) | ||
| ENST00000560863.5:n.281-11122T>C (ALDH1A2) | ||
| XM_005254372.1:c.-40-766A>G (LIPC) | XP_005254429.1:n.-40-766A>G | |
| XM_011521551.1:c.-40-766A>G (LIPC) | XP_011519853.1:n.-40-766A>G | |
| XR_429537.2:n.29+97T>C | ||
| XR_932289.1:n.29+97T>C | ||
| XM_024449916.1:c.-41+76A>G (LIPC) | XP_024305684.1:n.-41+76A>G | |
| XR_001751556.2:n.81+97T>C | ||
| XR_001751557.2:n.81+97T>C | ||
| XR_001751558.2:n.81+97T>C | ||
| XR_001751559.2:n.81+97T>C | ||
| XR_001751560.2:n.81+97T>C | ||
| XR_001751563.2:n.81+97T>C | ||
| XR_001751565.2:n.81+97T>C | ||
| XR_429537.4:n.81+97T>C |