Linked Data
ClinVar Variation Id:
159711
dbSNP Id:
rs150000731
ExAC:
17:16120544 G / A
gnomAD v2:
17-16120544-G-A
gnomAD v3:
17-16217230-G-A
gnomAD v4:
17-16217230-G-A
COSMIC:
COSM3514572
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16217230G>A , CM000679.2:g.16217230G>A | GRCh38 |
| NC_000017.10:g.16120544G>A , CM000679.1:g.16120544G>A | GRCh37 |
| NC_000017.9:g.16061269G>A | NCBI36 |
| NG_032651.1:g.5036G>A | |
| NG_047111.1:g.4517C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225609.10:c.4G>A (PIGL) MANE Select | ENSP00000225609.5:p.Glu2Lys | |
| ENST00000225609.9:c.4G>A (PIGL) | ENSP00000225609.5:p.Glu2Lys | |
| ENST00000395844.8:c.4G>A (PIGL) | ENSP00000379185.3:p.Glu2Lys | |
| ENST00000430577.2:c.-509+635C>T (NCOR1) | ENSP00000410784.2:n.-509+635C>T | |
| ENST00000470116.2:c.4G>A (PIGL) | ENSP00000463754.1:p.Glu2Lys | |
| ENST00000477745.5:n.2G>A (PIGL) | ||
| ENST00000498772.6:n.21G>A (PIGL) | ||
| ENST00000581006.5:c.4G>A (PIGL) | ENSP00000462432.1:p.Glu2Lys | |
| ENST00000584797.5:c.4G>A (PIGL) | ENSP00000463540.1:p.Glu2Lys | |
| ENST00000585034.5:c.4G>A (PIGL) | ENSP00000464424.1:p.Glu2Lys | |
| ENST00000607144.4:n.40G>A (PIGL) | ||
| NM_004278.3:c.4G>A (PIGL) | NP_004269.1:p.Glu2Lys | |
| XM_011524080.1:c.4G>A (PIGL) | XP_011522382.1:p.Glu2Lys | |
| XR_243571.2:n.22G>A (PIGL) | ||
| XR_429826.2:n.22G>A (PIGL) | ||
| XM_011524080.2:c.4G>A (PIGL) | XP_011522382.1:p.Glu2Lys | |
| XM_017025349.1:c.4G>A (PIGL) | XP_016880838.1:p.Glu2Lys | |
| XM_017025350.1:c.4G>A (PIGL) | XP_016880839.1:p.Glu2Lys | |
| XM_017025351.1:c.4G>A (PIGL) | XP_016880840.1:p.Glu2Lys | |
| XM_017025352.1:c.4G>A (PIGL) | XP_016880841.1:p.Glu2Lys | |
| XM_017025353.1:c.4G>A (PIGL) | XP_016880842.1:p.Glu2Lys | |
| XM_017025354.1:c.4G>A (PIGL) | XP_016880843.1:p.Glu2Lys | |
| XM_017025355.1:c.4G>A (PIGL) | XP_016880844.1:p.Glu2Lys | |
| XM_017025356.1:c.4G>A (PIGL) | XP_016880845.1:p.Glu2Lys | |
| NM_004278.4:c.4G>A (PIGL) MANE Select | NP_004269.1:p.Glu2Lys |