Linked Data
ClinVar Variation Id:
253069
dbSNP Id:
rs536746349
gnomAD v3:
2-73950574-C-G
gnomAD v4:
2-73950574-C-G
PubMed:
PMID:23043144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73950574C>G , CM000664.2:g.73950574C>G | GRCh38 |
| NC_000002.11:g.74177701C>G , CM000664.1:g.74177701C>G | GRCh37 |
| NC_000002.10:g.74031209C>G | NCBI36 |
| NG_008044.1:g.28749C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264093.9:c.444-11C>G MANE Select | ENSP00000264093.4:n.444-11C>G | |
| ENST00000264093.8:c.444-11C>G | ENSP00000264093.4:n.444-11C>G | |
| ENST00000348222.3:c.443+3668C>G | ENSP00000306964.3:n.443+3668C>G | |
| ENST00000418996.5:c.*60+3668C>G | ENSP00000408209.1:n.*60+3668C>G | |
| ENST00000462685.1:n.431-53C>G | ||
| ENST00000489796.5:n.461-27C>G | ||
| ENST00000629438.2:c.*61-11C>G | ENSP00000487122.1:n.*61-11C>G | |
| NM_080916.2:c.444-11C>G | NP_550438.1:n.444-11C>G | |
| NM_080918.2:c.443+3668C>G | NP_550440.1:n.443+3668C>G | |
| XM_005264173.2:c.153-11C>G | XP_005264230.1:n.153-11C>G | |
| XM_005264174.1:c.153-11C>G | XP_005264231.1:n.153-11C>G | |
| XM_011532647.1:c.426-11C>G | XP_011530949.1:n.426-11C>G | |
| XM_011532648.1:c.135-11C>G | XP_011530950.1:n.135-11C>G | |
| XR_244926.2:n.525-11C>G | ||
| NM_001318859.1:c.425+3686C>G | NP_001305788.1:n.425+3686C>G | |
| NM_001318860.1:c.153-11C>G | NP_001305789.1:n.153-11C>G | |
| NM_001318861.1:c.153-11C>G | NP_001305790.1:n.153-11C>G | |
| NM_001318862.1:c.135-11C>G | NP_001305791.1:n.135-11C>G | |
| NM_001318863.1:c.135-11C>G | NP_001305792.1:n.135-11C>G | |
| NR_134893.1:n.415+3668C>G | ||
| NR_134894.1:n.416-11C>G | ||
| NR_134895.1:n.228-7572C>G | ||
| NR_134896.1:n.397+3686C>G | ||
| NR_134897.1:n.502-53C>G | ||
| NR_134898.1:n.415+3668C>G | ||
| XM_011532647.2:c.426-11C>G | XP_011530949.1:n.426-11C>G | |
| XM_024452739.1:c.153-11C>G | XP_024308507.1:n.153-11C>G | |
| XR_001738656.1:n.527+3668C>G | ||
| XR_244926.3:n.527-11C>G | ||
| NM_080916.3:c.444-11C>G MANE Select | NP_550438.1:n.444-11C>G | |
| NM_001318859.2:c.425+3686C>G | NP_001305788.1:n.425+3686C>G | |
| NM_001318860.2:c.153-11C>G | NP_001305789.1:n.153-11C>G | |
| NM_001318861.2:c.153-11C>G | NP_001305790.1:n.153-11C>G | |
| NM_001318862.2:c.135-11C>G | NP_001305791.1:n.135-11C>G | |
| NM_001318863.2:c.135-11C>G | NP_001305792.1:n.135-11C>G | |
| NM_080918.3:c.443+3668C>G | NP_550440.1:n.443+3668C>G | |
| NR_134893.2:n.361+3668C>G | ||
| NR_134894.2:n.362-11C>G | ||
| NR_134895.2:n.174-7572C>G | ||
| NR_134896.2:n.343+3686C>G | ||
| NR_134897.2:n.448-53C>G | ||
| NR_134898.2:n.361+3668C>G |