Linked Data
ClinVar Variation Id:
8158
dbSNP Id:
rs104893632
gnomAD v2:
2-74184339-G-A
gnomAD v3:
2-73957212-G-A
gnomAD v4:
2-73957212-G-A
PubMed:
PMID:12205643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73957212G>A , CM000664.2:g.73957212G>A | GRCh38 |
| NC_000002.11:g.74184339G>A , CM000664.1:g.74184339G>A | GRCh37 |
| NC_000002.10:g.74037847G>A | NCBI36 |
| NG_008044.1:g.35387G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264093.9:c.679G>A MANE Select | ENSP00000264093.4:p.Glu227Lys | |
| ENST00000264093.8:c.679G>A | ENSP00000264093.4:p.Glu227Lys | |
| ENST00000348222.3:c.444-934G>A | ENSP00000306964.3:n.444-934G>A | |
| ENST00000418996.5:c.*61-934G>A | ENSP00000408209.1:n.*61-934G>A | |
| ENST00000462685.1:n.537-934G>A | ||
| ENST00000489796.5:n.593-934G>A | ||
| ENST00000629438.2:c.*296G>A | ENSP00000487122.1:n.*296G>A | |
| NM_080916.2:c.679G>A | NP_550438.1:p.Glu227Lys | |
| NM_080918.2:c.444-934G>A | NP_550440.1:n.444-934G>A | |
| XM_005264173.2:c.388G>A | XP_005264230.1:p.Glu130Lys | |
| XM_005264174.1:c.388G>A | XP_005264231.1:p.Glu130Lys | |
| XM_011532647.1:c.661G>A | XP_011530949.1:p.Glu221Lys | |
| XM_011532648.1:c.370G>A | XP_011530950.1:p.Glu124Lys | |
| XR_244926.2:n.673-934G>A | ||
| NM_001318859.1:c.426-934G>A | NP_001305788.1:n.426-934G>A | |
| NM_001318860.1:c.388G>A | NP_001305789.1:p.Glu130Lys | |
| NM_001318861.1:c.388G>A | NP_001305790.1:p.Glu130Lys | |
| NM_001318862.1:c.370G>A | NP_001305791.1:p.Glu124Lys | |
| NM_001318863.1:c.370G>A | NP_001305792.1:p.Glu124Lys | |
| NR_134893.1:n.416-934G>A | ||
| NR_134894.1:n.564-934G>A | ||
| NR_134895.1:n.228-934G>A | ||
| NR_134896.1:n.398-934G>A | ||
| NR_134897.1:n.608-934G>A | ||
| NR_134898.1:n.503G>A | ||
| XM_011532647.2:c.661G>A | XP_011530949.1:p.Glu221Lys | |
| XM_024452739.1:c.388G>A | XP_024308507.1:p.Glu130Lys | |
| XR_001738656.1:n.615G>A | ||
| XR_244926.3:n.675-934G>A | ||
| NM_080916.3:c.679G>A MANE Select | NP_550438.1:p.Glu227Lys | |
| NM_001318859.2:c.426-934G>A | NP_001305788.1:n.426-934G>A | |
| NM_001318860.2:c.388G>A | NP_001305789.1:p.Glu130Lys | |
| NM_001318861.2:c.388G>A | NP_001305790.1:p.Glu130Lys | |
| NM_001318862.2:c.370G>A | NP_001305791.1:p.Glu124Lys | |
| NM_001318863.2:c.370G>A | NP_001305792.1:p.Glu124Lys | |
| NM_080918.3:c.444-934G>A | NP_550440.1:n.444-934G>A | |
| NR_134893.2:n.362-934G>A | ||
| NR_134894.2:n.510-934G>A | ||
| NR_134895.2:n.174-934G>A | ||
| NR_134896.2:n.344-934G>A | ||
| NR_134897.2:n.554-934G>A | ||
| NR_134898.2:n.449G>A |