Linked Data
ClinVar Variation Id:
214285
dbSNP Id:
rs144181978
ExAC:
2:74177730 T / A
gnomAD v2:
2-74177730-T-A
gnomAD v3:
2-73950603-T-A
gnomAD v4:
2-73950603-T-A
PubMed:
PMID:23043144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73950603T>A , CM000664.2:g.73950603T>A | GRCh38 |
| NC_000002.11:g.74177730T>A , CM000664.1:g.74177730T>A | GRCh37 |
| NC_000002.10:g.74031238T>A | NCBI36 |
| NG_008044.1:g.28778T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264093.9:c.462T>A MANE Select | ENSP00000264093.4:p.Asn154Lys | |
| ENST00000264093.8:c.462T>A | ENSP00000264093.4:p.Asn154Lys | |
| ENST00000348222.3:c.443+3697T>A | ENSP00000306964.3:n.443+3697T>A | |
| ENST00000418996.5:c.*60+3697T>A | ENSP00000408209.1:n.*60+3697T>A | |
| ENST00000462685.1:n.431-24T>A | ||
| ENST00000489796.5:n.463T>A | ||
| ENST00000629438.2:c.*79T>A | ENSP00000487122.1:n.*79T>A | |
| NM_080916.2:c.462T>A | NP_550438.1:p.Asn154Lys | |
| NM_080918.2:c.443+3697T>A | NP_550440.1:n.443+3697T>A | |
| XM_005264173.2:c.171T>A | XP_005264230.1:p.Asn57Lys | |
| XM_005264174.1:c.171T>A | XP_005264231.1:p.Asn57Lys | |
| XM_011532647.1:c.444T>A | XP_011530949.1:p.Asn148Lys | |
| XM_011532648.1:c.153T>A | XP_011530950.1:p.Asn51Lys | |
| XR_244926.2:n.543T>A | ||
| NM_001318859.1:c.425+3715T>A | NP_001305788.1:n.425+3715T>A | |
| NM_001318860.1:c.171T>A | NP_001305789.1:p.Asn57Lys | |
| NM_001318861.1:c.171T>A | NP_001305790.1:p.Asn57Lys | |
| NM_001318862.1:c.153T>A | NP_001305791.1:p.Asn51Lys | |
| NM_001318863.1:c.153T>A | NP_001305792.1:p.Asn51Lys | |
| NR_134893.1:n.415+3697T>A | ||
| NR_134894.1:n.434T>A | ||
| NR_134895.1:n.228-7543T>A | ||
| NR_134896.1:n.397+3715T>A | ||
| NR_134897.1:n.502-24T>A | ||
| NR_134898.1:n.415+3697T>A | ||
| XM_011532647.2:c.444T>A | XP_011530949.1:p.Asn148Lys | |
| XM_024452739.1:c.171T>A | XP_024308507.1:p.Asn57Lys | |
| XR_001738656.1:n.527+3697T>A | ||
| XR_244926.3:n.545T>A | ||
| NM_080916.3:c.462T>A MANE Select | NP_550438.1:p.Asn154Lys | |
| NM_001318859.2:c.425+3715T>A | NP_001305788.1:n.425+3715T>A | |
| NM_001318860.2:c.171T>A | NP_001305789.1:p.Asn57Lys | |
| NM_001318861.2:c.171T>A | NP_001305790.1:p.Asn57Lys | |
| NM_001318862.2:c.153T>A | NP_001305791.1:p.Asn51Lys | |
| NM_001318863.2:c.153T>A | NP_001305792.1:p.Asn51Lys | |
| NM_080918.3:c.443+3697T>A | NP_550440.1:n.443+3697T>A | |
| NR_134893.2:n.361+3697T>A | ||
| NR_134894.2:n.380T>A | ||
| NR_134895.2:n.174-7543T>A | ||
| NR_134896.2:n.343+3715T>A | ||
| NR_134897.2:n.448-24T>A | ||
| NR_134898.2:n.361+3697T>A |