Linked Data
ClinVar Variation Id:
129357
dbSNP Id:
rs914428
ExAC:
9:138669261 G / A
gnomAD v2:
9-138669261-G-A
gnomAD v3:
9-135777415-G-A
gnomAD v4:
9-135777415-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135777415G>A , CM000671.2:g.135777415G>A | GRCh38 |
| NC_000009.11:g.138669261G>A , CM000671.1:g.138669261G>A | GRCh37 |
| NC_000009.10:g.137809082G>A | NCBI36 |
| NG_033070.1:g.80231G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371757.7:c.2427G>A MANE Select | ENSP00000360822.2:p.Thr809= | |
| ENST00000674572.1:c.2268G>A | ENSP00000501742.1:p.Thr756= | |
| ENST00000675090.1:c.2175G>A | ENSP00000501833.1:p.Thr725= | |
| ENST00000675102.1:n.1042G>A | ||
| ENST00000675399.1:c.2175G>A | ENSP00000501932.1:p.Thr725= | |
| ENST00000676421.1:c.2184G>A | ENSP00000502322.1:p.Thr728= | |
| ENST00000263604.5:c.2328G>A | ENSP00000263604.4:p.Thr776= | |
| ENST00000371757.6:c.2427G>A | ENSP00000360822.2:p.Thr809= | |
| ENST00000460750.5:c.*2037G>A | ENSP00000418777.1:n.*2037G>A | |
| ENST00000486577.6:c.2310G>A | ENSP00000417578.3:p.Thr770= | |
| ENST00000487664.5:c.2427G>A | ENSP00000417851.2:p.Thr809= | |
| ENST00000488444.6:c.2370G>A | ENSP00000419007.3:p.Thr790= | |
| ENST00000490355.6:c.2364G>A | ENSP00000418003.3:p.Thr788= | |
| ENST00000490363.3:n.2246G>A | ||
| ENST00000491806.6:c.2370G>A | ENSP00000419086.3:p.Thr790= | |
| ENST00000628528.2:c.2292G>A | ENSP00000486374.1:p.Thr764= | |
| ENST00000630792.2:c.2262G>A | ENSP00000486486.1:p.Thr754= | |
| ENST00000631073.2:c.2370G>A | ENSP00000486130.1:p.Thr790= | |
| ENST00000631193.1:c.276G>A | ENSP00000486830.1:p.Thr92= | |
| NM_001272003.1:c.2292G>A | NP_001258932.1:p.Thr764= | |
| NM_020822.2:c.2427G>A | NP_065873.2:p.Thr809= | |
| XM_011518877.1:c.2562G>A | XP_011517179.1:p.Thr854= | |
| XM_011518878.1:c.2571G>A | XP_011517180.1:p.Thr857= | |
| XM_011518879.1:c.2562G>A | XP_011517181.1:p.Thr854= | |
| XM_011518880.1:c.2328G>A | XP_011517182.1:p.Thr776= | |
| XM_011518881.1:c.1917G>A | XP_011517183.1:p.Thr639= | |
| XM_011518877.3:c.2562G>A | XP_011517179.1:p.Thr854= | |
| XM_011518878.3:c.2571G>A | XP_011517180.1:p.Thr857= | |
| XM_011518879.3:c.2562G>A | XP_011517181.1:p.Thr854= | |
| XM_011518881.3:c.1917G>A | XP_011517183.1:p.Thr639= | |
| XM_017014931.1:c.2361G>A | XP_016870420.1:p.Thr787= | |
| XM_017014932.1:c.2184G>A | XP_016870421.1:p.Thr728= | |
| XM_017014933.1:c.1917G>A | XP_016870422.1:p.Thr639= | |
| XM_024447617.1:c.1917G>A | XP_024303385.1:p.Thr639= | |
| XM_024447618.1:c.1917G>A | XP_024303386.1:p.Thr639= | |
| NM_020822.3:c.2427G>A MANE Select | NP_065873.2:p.Thr809= | |
| NM_001272003.2:c.2292G>A | NP_001258932.1:p.Thr764= |