Linked Data
ClinVar Variation Id:
130246
dbSNP Id:
rs115623439
ExAC:
12:52180505 T / A
gnomAD v2:
12-52180505-T-A
gnomAD v3:
12-51786721-T-A
gnomAD v4:
12-51786721-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51786721T>A , CM000674.2:g.51786721T>A | GRCh38 |
| NC_000012.11:g.52180505T>A , CM000674.1:g.52180505T>A | GRCh37 |
| NC_000012.10:g.50466772T>A | NCBI36 |
| NG_021180.2:g.200486T>A | |
| NG_021180.3:g.201764T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354534.11:c.4122T>A MANE Plus Clinical | ENSP00000346534.4:p.Thr1374= | |
| ENST00000548086.3:c.1916T>A | ||
| ENST00000627620.5:c.4122T>A MANE Select | ENSP00000487583.2:p.Thr1374= | |
| ENST00000636945.2:c.2186T>A | ||
| ENST00000662684.1:c.4122T>A | ENSP00000499636.1:p.Thr1374= | |
| ENST00000668547.1:c.3999T>A | ENSP00000499691.1:p.Thr1333= | |
| ENST00000354534.10:c.4122T>A | ENSP00000346534.4:p.Thr1374= | |
| ENST00000355133.7:c.3999T>A | ENSP00000347255.4:p.Thr1333= | |
| ENST00000545061.5:c.3999T>A | ENSP00000440360.1:p.Thr1333= | |
| ENST00000548086.1:n.373T>A | ||
| ENST00000599343.5:c.4155T>A | ENSP00000476447.3:p.Thr1385= | |
| ENST00000627620.2:c.4122T>A | ENSP00000487583.1:p.Thr1374= | |
| NM_001177984.2:c.3999T>A | NP_001171455.1:p.Thr1333= | |
| NM_014191.3:c.4122T>A | NP_055006.1:p.Thr1374= | |
| XM_006719556.2:c.4122T>A | XP_006719619.1:p.Thr1374= | |
| XM_011538650.1:c.4122T>A | XP_011536952.1:p.Thr1374= | |
| XM_011538651.1:c.4122T>A | XP_011536953.1:p.Thr1374= | |
| NM_001330260.1:c.4122T>A | NP_001317189.1:p.Thr1374= | |
| XM_006719556.4:c.4122T>A | XP_006719619.1:p.Thr1374= | |
| XM_011538651.3:c.4122T>A | XP_011536953.1:p.Thr1374= | |
| XM_017019794.2:c.4122T>A | XP_016875283.1:p.Thr1374= | |
| XM_017019795.2:c.3999T>A | XP_016875284.1:p.Thr1333= | |
| XM_017019796.1:c.*220T>A | XP_016875285.1:n.*220T>A | |
| NM_001330260.2:c.4122T>A MANE Select | NP_001317189.1:p.Thr1374= | |
| NM_001369788.1:c.3999T>A | NP_001356717.1:p.Thr1333= | |
| NM_014191.4:c.4122T>A MANE Plus Clinical | NP_055006.1:p.Thr1374= | |
| NM_001177984.3:c.3999T>A | NP_001171455.1:p.Thr1333= |