Linked Data
ClinVar Variation Id:
237394
dbSNP Id:
rs587779969
ExAC:
2:47710084 C / A
gnomAD v2:
2-47710084-C-A
gnomAD v3:
2-47482945-C-A
gnomAD v4:
2-47482945-C-A
PubMed:
PMID:23047549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47482945C>A , CM000664.2:g.47482945C>A | GRCh38 |
| NC_000002.11:g.47710084C>A , CM000664.1:g.47710084C>A | GRCh37 |
| NC_000002.10:g.47563588C>A | NCBI36 |
| NG_007110.2:g.84822C>A , LRG_218:g.84822C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2634+2074C>A | ENSP00000495641.2:n.2634+2074C>A | |
| ENST00000233146.7:c.2801C>A MANE Select | ENSP00000233146.2:p.Thr934Lys | |
| ENST00000543555.6:c.2603C>A | ENSP00000442697.1:p.Thr868Lys | |
| ENST00000644092.1:c.*934+2074C>A | ENSP00000496351.1:n.*934+2074C>A | |
| ENST00000644900.1:c.487+2074C>A | ||
| ENST00000645339.1:c.2634+2074C>A | ENSP00000496441.1:n.2634+2074C>A | |
| ENST00000645506.1:c.2634+2074C>A | ENSP00000495455.1:n.2634+2074C>A | |
| ENST00000646415.1:c.2634+2074C>A | ENSP00000495543.1:n.2634+2074C>A | |
| ENST00000233146.6:c.2801C>A | ENSP00000233146.2:p.Thr934Lys | |
| ENST00000406134.5:c.2634+2074C>A | ENSP00000384199.1:n.2634+2074C>A | |
| ENST00000461394.5:n.75+2074C>A | ||
| ENST00000543555.5:c.2603C>A | ENSP00000442697.1:p.Thr868Lys | |
| ENST00000610696.4:c.*1197C>A | ENSP00000483159.1:n.*1197C>A | |
| ENST00000613514.4:c.*1341C>A | ENSP00000484137.1:n.*1341C>A | |
| ENST00000617333.3:c.*1567C>A | ENSP00000482468.1:n.*1567C>A | |
| ENST00000617938.4:c.*1773C>A | ENSP00000481158.1:n.*1773C>A | |
| ENST00000621359.2:c.*367C>A | ENSP00000481416.1:n.*367C>A | |
| NM_000251.2:c.2801C>A , LRG_218t1:c.2801C>A | NP_000242.1:p.Thr934Lys | |
| NM_001258281.1:c.2603C>A | NP_001245210.1:p.Thr868Lys | |
| XM_005264332.2:c.2634+2074C>A | XP_005264389.2:n.2634+2074C>A | |
| XM_011532867.1:c.2634+2074C>A | XP_011531169.1:n.2634+2074C>A | |
| XR_939685.1:n.2706+2074C>A | ||
| XM_005264332.4:c.2634+2074C>A | XP_005264389.2:n.2634+2074C>A | |
| XM_011532867.2:c.2634+2074C>A | XP_011531169.1:n.2634+2074C>A | |
| XR_001738747.2:n.2696+2074C>A | ||
| XR_939685.2:n.2696+2074C>A | ||
| NM_000251.3:c.2801C>A MANE Select | NP_000242.1:p.Thr934Lys |