Linked Data
ClinVar Variation Id:
1335651
ClinVar RCV Id:
RCV001815957
dbSNP Id:
rs766684321
ExAC:
6:157405978 T / A
gnomAD v2:
6-157405978-T-A
gnomAD v3:
6-157084844-T-A
gnomAD v4:
6-157084844-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157084844T>A , CM000668.2:g.157084844T>A | GRCh38 |
| NC_000006.11:g.157405978T>A , CM000668.1:g.157405978T>A | GRCh37 |
| NC_000006.10:g.157447670T>A | NCBI36 |
| NG_032093.1:g.311915T>A | |
| NG_032093.2:g.311915T>A | |
| NG_066624.1:g.313819T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.2430T>A | ENSP00000055163.8:p.Val810= | |
| ENST00000414678.8:c.2430T>A | ENSP00000412835.3:p.Val810= | |
| ENST00000637015.2:c.2430T>A | ENSP00000489729.2:p.Val810= | |
| ENST00000319584.11:c.444T>A | ENSP00000313006.7:p.Val148= | |
| ENST00000346085.10:c.2469T>A | ENSP00000344546.5:p.Val823= | |
| ENST00000350026.10:c.2181T>A | ENSP00000055163.7:p.Val727= | |
| ENST00000414678.7:c.678T>A | ENSP00000412835.2:p.Val226= | |
| ENST00000452544.2:n.331T>A | ||
| ENST00000493658.2:n.79T>A | ||
| ENST00000635849.1:c.-70T>A | ENSP00000490948.1:n.-70T>A | |
| ENST00000636930.2:c.2430T>A MANE Select | ENSP00000490491.2:p.Val810= | |
| ENST00000637003.1:c.-70T>A | ENSP00000489666.1:n.-70T>A | |
| ENST00000637810.1:c.-70T>A | ENSP00000489636.1:n.-70T>A | |
| ENST00000637904.1:c.-70T>A | ENSP00000490550.1:n.-70T>A | |
| ENST00000647938.1:c.2220T>A | ENSP00000498155.1:p.Val740= | |
| ENST00000674190.1:n.1179T>A | ||
| ENST00000319584.10:c.447T>A | ENSP00000313006.6:p.Val149= | |
| ENST00000346085.9:c.2220T>A | ENSP00000344546.4:p.Val740= | |
| ENST00000350026.9:c.2181T>A | ENSP00000055163.7:p.Val727= | |
| ENST00000414678.6:c.678T>A | ENSP00000412835.2:p.Val226= | |
| ENST00000452544.1:n.289T>A | ||
| ENST00000493658.1:n.79T>A | ||
| NM_017519.2:c.2181T>A | NP_059989.2:p.Val727= | |
| NM_020732.3:c.2220T>A | NP_065783.3:p.Val740= | |
| XM_005267069.3:c.2181T>A | XP_005267126.2:p.Val727= | |
| XM_011535984.1:c.1131T>A | XP_011534286.1:p.Val377= | |
| XM_011535985.1:c.1131T>A | XP_011534287.1:p.Val377= | |
| XM_011535986.1:c.711T>A | XP_011534288.1:p.Val237= | |
| XM_011535987.1:c.330T>A | XP_011534289.1:p.Val110= | |
| NM_001346813.1:c.2181T>A | NP_001333742.1:p.Val727= | |
| NM_001363725.1:c.-70T>A | NP_001350654.1:n.-70T>A | |
| XM_011535984.2:c.2262T>A | XP_011534286.2:p.Val754= | |
| XM_017011103.2:c.2262T>A | XP_016866592.1:p.Val754= | |
| XM_017011104.1:c.2262T>A | XP_016866593.1:p.Val754= | |
| XM_017011105.2:c.2262T>A | XP_016866594.1:p.Val754= | |
| XM_017011106.2:c.2262T>A | XP_016866595.1:p.Val754= | |
| XM_017011107.2:c.2262T>A | XP_016866596.1:p.Val754= | |
| XR_002956289.1:n.2345T>A | ||
| NM_001363725.2:c.-70T>A | NP_001350654.1:n.-70T>A | |
| NM_001371656.1:c.2469T>A | NP_001358585.1:p.Val823= | |
| NM_001374820.1:c.2469T>A | NP_001361749.1:p.Val823= | |
| NM_001374828.1:c.2430T>A MANE Select | NP_001361757.1:p.Val810= | |
| NM_017519.3:c.2430T>A | NP_059989.3:p.Val810= |