Linked Data
ClinVar Variation Id:
253066
dbSNP Id:
rs762550967
ExAC:
2:74154167 G / A
gnomAD v2:
2-74154167-G-A
gnomAD v4:
2-73927040-G-A
PubMed:
PMID:23043144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73927040G>A , CM000664.2:g.73927040G>A | GRCh38 |
| NC_000002.11:g.74154167G>A , CM000664.1:g.74154167G>A | GRCh37 |
| NC_000002.10:g.74007675G>A | NCBI36 |
| NG_008044.1:g.5215G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264093.9:c.130G>A MANE Select | ENSP00000264093.4:p.Glu44Lys | |
| ENST00000264093.8:c.130G>A | ENSP00000264093.4:p.Glu44Lys | |
| ENST00000348222.3:c.130G>A | ENSP00000306964.3:p.Glu44Lys | |
| ENST00000418996.5:c.130G>A | ENSP00000408209.1:p.Glu44Lys | |
| ENST00000462551.1:n.148G>A | ||
| ENST00000462685.1:n.144G>A | ||
| ENST00000489796.5:n.147G>A | ||
| ENST00000493055.1:n.133G>A | ||
| ENST00000629438.2:c.130G>A | ENSP00000487122.1:p.Glu44Lys | |
| NM_080916.2:c.130G>A | NP_550438.1:p.Glu44Lys | |
| NM_080918.2:c.130G>A | NP_550440.1:p.Glu44Lys | |
| XM_005264173.2:c.-49G>A | XP_005264230.1:n.-49G>A | |
| XM_005264174.1:c.-135G>A | XP_005264231.1:n.-135G>A | |
| XM_011532647.1:c.130G>A | XP_011530949.1:p.Glu44Lys | |
| XM_011532648.1:c.-135G>A | XP_011530950.1:n.-135G>A | |
| XR_244926.2:n.211G>A | ||
| NM_001318859.1:c.130G>A | NP_001305788.1:p.Glu44Lys | |
| NM_001318860.1:c.-49G>A | NP_001305789.1:n.-49G>A | |
| NM_001318861.1:c.-135G>A | NP_001305790.1:n.-135G>A | |
| NM_001318862.1:c.-135G>A | NP_001305791.1:n.-135G>A | |
| NM_001318863.1:c.-49G>A | NP_001305792.1:n.-49G>A | |
| NR_134893.1:n.215G>A | ||
| NR_134894.1:n.215G>A | ||
| NR_134895.1:n.215G>A | ||
| NR_134896.1:n.215G>A | ||
| NR_134897.1:n.215G>A | ||
| NR_134898.1:n.215G>A | ||
| XM_011532647.2:c.130G>A | XP_011530949.1:p.Glu44Lys | |
| XM_024452739.1:c.-248G>A | XP_024308507.1:n.-248G>A | |
| XR_001738656.1:n.214G>A | ||
| XR_244926.3:n.213G>A | ||
| NM_080916.3:c.130G>A MANE Select | NP_550438.1:p.Glu44Lys | |
| NM_001318859.2:c.130G>A | NP_001305788.1:p.Glu44Lys | |
| NM_001318860.2:c.-49G>A | NP_001305789.1:n.-49G>A | |
| NM_001318861.2:c.-135G>A | NP_001305790.1:n.-135G>A | |
| NM_001318862.2:c.-135G>A | NP_001305791.1:n.-135G>A | |
| NM_001318863.2:c.-49G>A | NP_001305792.1:n.-49G>A | |
| NM_080918.3:c.130G>A | NP_550440.1:p.Glu44Lys | |
| NR_134893.2:n.161G>A | ||
| NR_134894.2:n.161G>A | ||
| NR_134895.2:n.161G>A | ||
| NR_134896.2:n.161G>A | ||
| NR_134897.2:n.161G>A | ||
| NR_134898.2:n.161G>A |