Linked Data
dbSNP Id:
rs10159477
gnomAD v2:
10-71099888-G-A
gnomAD v3:
10-69340132-G-A
gnomAD v4:
10-69340132-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69340132G>A , CM000672.2:g.69340132G>A | GRCh38 |
| NC_000010.10:g.71099888G>A , CM000672.1:g.71099888G>A | GRCh37 |
| NC_000010.9:g.70769894G>A | NCBI36 |
| NG_012077.1:g.75133G>A , LRG_365:g.75133G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470050.2:c.64-3695G>A | ENSP00000515580.1:n.64-3695G>A | |
| ENST00000703944.1:c.76-3695G>A | ENSP00000515576.1:n.76-3695G>A | |
| ENST00000703945.1:c.-21-3695G>A | ENSP00000515578.1:n.-21-3695G>A | |
| ENST00000703946.1:c.64-3695G>A | ENSP00000515579.1:n.64-3695G>A | |
| ENST00000703947.1:c.64-3695G>A | ENSP00000515581.1:n.64-3695G>A | |
| ENST00000703948.1:c.64-3695G>A | ENSP00000515582.1:n.64-3695G>A | |
| ENST00000703949.1:c.64-3695G>A | ENSP00000515583.1:n.64-3695G>A | |
| ENST00000703950.1:c.64-3695G>A | ENSP00000515584.1:n.64-3695G>A | |
| ENST00000703951.1:c.64-3695G>A | ENSP00000515585.1:n.64-3695G>A | |
| ENST00000703952.1:c.64-3695G>A | ENSP00000515586.1:n.64-3695G>A | |
| ENST00000703953.1:c.64-3695G>A | ENSP00000515587.1:n.64-3695G>A | |
| ENST00000703954.1:c.64-3695G>A | ENSP00000515588.1:n.64-3695G>A | |
| ENST00000703955.1:n.613+1456G>A | ||
| ENST00000298649.8:c.61-3695G>A | ENSP00000298649.3:n.61-3695G>A | |
| ENST00000359426.7:c.64-3695G>A MANE Select | ENSP00000352398.6:n.64-3695G>A | |
| ENST00000436817.6:c.76-3695G>A | ENSP00000415949.2:n.76-3695G>A | |
| ENST00000450646.6:c.76-3695G>A | ENSP00000409761.2:n.76-3695G>A | |
| ENST00000464803.6:c.169-3695G>A | ENSP00000496531.1:n.169-3695G>A | |
| ENST00000476368.6:c.76-3695G>A | ENSP00000495526.1:n.76-3695G>A | |
| ENST00000493591.6:c.231-3695G>A | ENSP00000494917.1:n.231-3695G>A | |
| ENST00000643399.2:c.76-3695G>A MANE Plus Clinical | ENSP00000494664.1:n.76-3695G>A | |
| ENST00000298649.7:c.61-3695G>A | ENSP00000298649.3:n.61-3695G>A | |
| ENST00000359426.6:c.64-3695G>A | ENSP00000352398.6:n.64-3695G>A | |
| ENST00000360289.6:c.28-3695G>A | ENSP00000353433.2:n.28-3695G>A | |
| ENST00000421088.5:c.28-3695G>A | ENSP00000398316.1:n.28-3695G>A | |
| ENST00000436817.5:c.61-3695G>A | ENSP00000415949.1:n.61-3695G>A | |
| ENST00000448642.6:c.76-3695G>A | ENSP00000402103.3:n.76-3695G>A | |
| ENST00000450646.5:c.76-3695G>A | ENSP00000409761.1:n.76-3695G>A | |
| ENST00000464803.5:n.434-3695G>A | ||
| ENST00000476368.5:n.443-3695G>A | ||
| ENST00000480047.5:n.558+1456G>A | ||
| ENST00000483054.5:n.529-3695G>A | ||
| ENST00000483077.5:n.468-3695G>A | ||
| ENST00000493591.5:n.68-3695G>A | ||
| ENST00000494253.1:n.289+1824G>A | ||
| NM_000188.2:c.64-3695G>A | NP_000179.2:n.64-3695G>A | |
| NM_033496.2:c.61-3695G>A | NP_277031.1:n.61-3695G>A | |
| NM_033497.2:c.76-3695G>A | NP_277032.1:n.76-3695G>A | |
| NM_033498.2:c.76-3695G>A | NP_277033.1:n.76-3695G>A | |
| NM_033500.2:c.28-3695G>A , LRG_365t1:c.28-3695G>A | NP_277035.2:n.28-3695G>A | |
| XM_005269735.2:c.193-3695G>A | XP_005269792.1:n.193-3695G>A | |
| XM_005269736.1:c.76-3695G>A | XP_005269793.1:n.76-3695G>A | |
| XM_005269737.1:c.-22+1456G>A | XP_005269794.1:n.-22+1456G>A | |
| XM_011539732.1:c.28-3695G>A | XP_011538034.1:n.28-3695G>A | |
| XM_011539733.1:c.22-3695G>A | XP_011538035.1:n.22-3695G>A | |
| XM_011539734.1:c.19-3695G>A | XP_011538036.1:n.19-3695G>A | |
| NM_001322364.1:c.76-3695G>A | NP_001309293.1:n.76-3695G>A | |
| NM_001322365.1:c.169-3695G>A | NP_001309294.1:n.169-3695G>A | |
| NM_001322366.1:c.-21-3695G>A | NP_001309295.1:n.-21-3695G>A | |
| NM_001322367.1:c.64-3695G>A | NP_001309296.1:n.64-3695G>A | |
| NM_001358263.1:c.76-3695G>A MANE Plus Clinical | NP_001345192.1:n.76-3695G>A | |
| XM_024447969.1:c.76-3695G>A | XP_024303737.1:n.76-3695G>A | |
| NM_000188.3:c.64-3695G>A MANE Select | NP_000179.2:n.64-3695G>A | |
| NM_001322364.2:c.76-3695G>A | NP_001309293.1:n.76-3695G>A | |
| NM_001322365.2:c.169-3695G>A | NP_001309294.1:n.169-3695G>A | |
| NM_033496.3:c.61-3695G>A | NP_277031.1:n.61-3695G>A | |
| NM_033497.3:c.76-3695G>A | NP_277032.1:n.76-3695G>A | |
| NM_033498.3:c.76-3695G>A | NP_277033.1:n.76-3695G>A |