Linked Data
ClinVar Variation Id:
336770
dbSNP Id:
rs144703991
ExAC:
2:63720067 T / A
gnomAD v2:
2-63720067-T-A
gnomAD v3:
2-63492933-T-A
gnomAD v4:
2-63492933-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.63492933T>A , CM000664.2:g.63492933T>A | GRCh38 |
| NC_000002.11:g.63720067T>A , CM000664.1:g.63720067T>A | GRCh37 |
| NC_000002.10:g.63573571T>A | NCBI36 |
| NG_028144.1:g.100801A>T | |
| NG_028144.2:g.352893A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272321.12:c.83A>T MANE Select | ENSP00000272321.7:p.Asp28Val | |
| ENST00000272321.11:c.83A>T | ENSP00000272321.7:p.Asp28Val | |
| ENST00000409562.7:c.83A>T | ENSP00000387222.3:p.Asp28Val | |
| ENST00000409835.5:n.330A>T | ||
| ENST00000417238.5:c.*194A>T | ENSP00000411429.1:n.*194A>T | |
| ENST00000418148.5:c.78A>T | ||
| ENST00000431065.1:c.83A>T | ENSP00000396226.1:p.Asp28Val | |
| ENST00000467687.1:n.496A>T | ||
| ENST00000490935.5:n.591A>T | ||
| NM_015910.5:c.83A>T | NP_056994.3:p.Asp28Val | |
| XM_005264348.2:c.83A>T | XP_005264405.1:p.Asp28Val | |
| XM_011532881.1:c.11A>T | XP_011531183.1:p.Asp4Val | |
| XM_011532882.1:c.-17A>T | XP_011531184.1:n.-17A>T | |
| XM_011532883.1:c.83A>T | XP_011531185.1:p.Asp28Val | |
| XM_011532884.1:c.83A>T | XP_011531186.1:p.Asp28Val | |
| XM_011532885.1:c.83A>T | XP_011531187.1:p.Asp28Val | |
| XM_011532886.1:c.83A>T | XP_011531188.1:p.Asp28Val | |
| XM_011532887.1:c.83A>T | XP_011531189.1:p.Asp28Val | |
| XM_011532888.1:c.83A>T | XP_011531190.1:p.Asp28Val | |
| XM_011532889.1:c.83A>T | XP_011531191.1:p.Asp28Val | |
| XM_011532890.1:c.83A>T | XP_011531192.1:p.Asp28Val | |
| XM_011532891.1:c.11A>T | XP_011531193.1:p.Asp4Val | |
| XR_244934.1:n.330A>T | ||
| XR_244935.1:n.330A>T | ||
| XR_939686.1:n.330A>T | ||
| NM_001354044.1:c.11A>T | NP_001340973.1:p.Asp4Val | |
| NM_001354045.1:c.83A>T | NP_001340974.1:p.Asp28Val | |
| NM_015910.6:c.83A>T | NP_056994.3:p.Asp28Val | |
| NR_148704.1:n.863A>T | ||
| NR_148705.1:n.611A>T | ||
| XM_005264348.4:c.83A>T | XP_005264405.1:p.Asp28Val | |
| XM_011532881.3:c.11A>T | XP_011531183.1:p.Asp4Val | |
| XM_011532884.3:c.83A>T | XP_011531186.1:p.Asp28Val | |
| XM_011532887.3:c.83A>T | XP_011531189.1:p.Asp28Val | |
| XM_011532890.3:c.83A>T | XP_011531192.1:p.Asp28Val | |
| XM_011532891.2:c.11A>T | XP_011531193.1:p.Asp4Val | |
| XM_017004253.2:c.83A>T | XP_016859742.1:p.Asp28Val | |
| XM_017004254.2:c.83A>T | XP_016859743.1:p.Asp28Val | |
| XR_001738759.2:n.545A>T | ||
| XR_001738760.2:n.545A>T | ||
| XR_002959303.1:n.545A>T | ||
| XR_244934.3:n.545A>T | ||
| NM_015910.7:c.83A>T MANE Select | NP_056994.3:p.Asp28Val | |
| NM_001354044.2:c.11A>T | NP_001340973.1:p.Asp4Val | |
| NM_001354045.2:c.83A>T | NP_001340974.1:p.Asp28Val | |
| NR_148704.2:n.541A>T | ||
| NR_148705.2:n.289A>T |