Linked Data
dbSNP Id:
rs1044250
ExAC:
19:8436164 C / T
gnomAD v2:
19-8436164-C-T
gnomAD v3:
19-8371280-C-T
gnomAD v4:
19-8371280-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8371280C>T , CM000681.2:g.8371280C>T | GRCh38 |
| NC_000019.9:g.8436164C>T , CM000681.1:g.8436164C>T | GRCh37 |
| NC_000019.8:g.8342164C>T | NCBI36 |
| NG_012169.1:g.12154C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301455.7:c.797C>T (ANGPTL4) MANE Select | ENSP00000301455.1:p.Thr266Met | |
| ENST00000301455.6:c.797C>T (ANGPTL4) | ENSP00000301455.1:p.Thr266Met | |
| ENST00000351593.9:c.-88+73726G>A (ELAVL1) | ENSP00000264073.6:n.-88+73726G>A | |
| ENST00000393962.6:c.683C>T (ANGPTL4) | ENSP00000377534.1:p.Thr228Met | |
| ENST00000593998.5:c.797C>T (ANGPTL4) | ENSP00000472551.1:p.Thr266Met | |
| ENST00000594875.1:c.354-2913C>T (ANGPTL4) | ||
| ENST00000595079.5:c.*340C>T (ANGPTL4) | ENSP00000473025.1:n.*340C>T | |
| NM_001039667.2:c.683C>T (ANGPTL4) | NP_001034756.1:p.Thr228Met | |
| NM_139314.2:c.797C>T (ANGPTL4) | NP_647475.1:p.Thr266Met | |
| NR_104213.1:n.625-2913C>T (ANGPTL4) | ||
| XM_005272484.2:c.797C>T (ANGPTL4) | XP_005272541.1:p.Thr266Met | |
| XM_005272485.2:c.683C>T (ANGPTL4) | XP_005272542.1:p.Thr228Met | |
| XM_005272484.3:c.797C>T (ANGPTL4) | XP_005272541.1:p.Thr266Met | |
| XM_005272485.3:c.683C>T (ANGPTL4) | XP_005272542.1:p.Thr228Met | |
| NM_139314.3:c.797C>T (ANGPTL4) MANE Select | NP_647475.1:p.Thr266Met | |
| NM_001039667.3:c.683C>T (ANGPTL4) | NP_001034756.1:p.Thr228Met | |
| NR_104213.2:n.597-2913C>T (ANGPTL4) |