Linked Data
dbSNP Id:
rs1332431444
gnomAD v2:
10-71139939-C-T
gnomAD v3:
10-69380183-C-T
gnomAD v4:
10-69380183-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69380183C>T , CM000672.2:g.69380183C>T | GRCh38 |
| NC_000010.10:g.71139939C>T , CM000672.1:g.71139939C>T | GRCh37 |
| NC_000010.9:g.70809945C>T | NCBI36 |
| NG_012077.1:g.115184C>T , LRG_365:g.115184C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470050.2:c.1265+88C>T | ENSP00000515580.1:n.1265+88C>T | |
| ENST00000703945.1:c.1181+88C>T | ENSP00000515578.1:n.1181+88C>T | |
| ENST00000703946.1:c.1265+88C>T | ENSP00000515579.1:n.1265+88C>T | |
| ENST00000703947.1:c.876-2304C>T | ENSP00000515581.1:n.876-2304C>T | |
| ENST00000703948.1:c.*882+88C>T | ENSP00000515582.1:n.*882+88C>T | |
| ENST00000703949.1:c.1265+88C>T | ENSP00000515583.1:n.1265+88C>T | |
| ENST00000703950.1:c.1265+88C>T | ENSP00000515584.1:n.1265+88C>T | |
| ENST00000703951.1:c.1265+88C>T | ENSP00000515585.1:n.1265+88C>T | |
| ENST00000703952.1:c.1265+88C>T | ENSP00000515586.1:n.1265+88C>T | |
| ENST00000703953.1:c.*528+88C>T | ENSP00000515587.1:n.*528+88C>T | |
| ENST00000703954.1:c.1145+88C>T | ENSP00000515588.1:n.1145+88C>T | |
| ENST00000703955.1:n.1815+88C>T | ||
| ENST00000298649.8:c.1262+88C>T | ENSP00000298649.3:n.1262+88C>T | |
| ENST00000359426.7:c.1265+88C>T MANE Select | ENSP00000352398.6:n.1265+88C>T | |
| ENST00000436817.6:c.1277+88C>T | ENSP00000415949.2:n.1277+88C>T | |
| ENST00000493591.6:c.*1153+88C>T | ENSP00000494917.1:n.*1153+88C>T | |
| ENST00000643399.2:c.1277+88C>T MANE Plus Clinical | ENSP00000494664.1:n.1277+88C>T | |
| ENST00000298649.7:c.1262+88C>T | ENSP00000298649.3:n.1262+88C>T | |
| ENST00000359426.6:c.1265+88C>T | ENSP00000352398.6:n.1265+88C>T | |
| ENST00000360289.6:c.1229+88C>T | ENSP00000353433.2:n.1229+88C>T | |
| ENST00000448642.6:c.1277+88C>T | ENSP00000402103.3:n.1277+88C>T | |
| ENST00000494253.1:n.1491+88C>T | ||
| NM_000188.2:c.1265+88C>T | NP_000179.2:n.1265+88C>T | |
| NM_033496.2:c.1262+88C>T | NP_277031.1:n.1262+88C>T | |
| NM_033497.2:c.1277+88C>T | NP_277032.1:n.1277+88C>T | |
| NM_033498.2:c.1277+88C>T | NP_277033.1:n.1277+88C>T | |
| NM_033500.2:c.1229+88C>T , LRG_365t1:c.1229+88C>T | NP_277035.2:n.1229+88C>T | |
| XM_005269735.2:c.1394+88C>T | XP_005269792.1:n.1394+88C>T | |
| XM_005269736.1:c.1277+88C>T | XP_005269793.1:n.1277+88C>T | |
| XM_005269737.1:c.1181+88C>T | XP_005269794.1:n.1181+88C>T | |
| XM_011539732.1:c.1229+88C>T | XP_011538034.1:n.1229+88C>T | |
| XM_011539733.1:c.1223+88C>T | XP_011538035.1:n.1223+88C>T | |
| XM_011539734.1:c.1220+88C>T | XP_011538036.1:n.1220+88C>T | |
| NM_001322364.1:c.1277+88C>T | NP_001309293.1:n.1277+88C>T | |
| NM_001322365.1:c.1370+88C>T | NP_001309294.1:n.1370+88C>T | |
| NM_001322366.1:c.1181+88C>T | NP_001309295.1:n.1181+88C>T | |
| NM_001322367.1:c.1169+88C>T | NP_001309296.1:n.1169+88C>T | |
| NM_001358263.1:c.1277+88C>T MANE Plus Clinical | NP_001345192.1:n.1277+88C>T | |
| XM_024447969.1:c.1277+88C>T | XP_024303737.1:n.1277+88C>T | |
| NM_000188.3:c.1265+88C>T MANE Select | NP_000179.2:n.1265+88C>T | |
| NM_001322364.2:c.1277+88C>T | NP_001309293.1:n.1277+88C>T | |
| NM_001322365.2:c.1370+88C>T | NP_001309294.1:n.1370+88C>T | |
| NM_033496.3:c.1262+88C>T | NP_277031.1:n.1262+88C>T | |
| NM_033497.3:c.1277+88C>T | NP_277032.1:n.1277+88C>T | |
| NM_033498.3:c.1277+88C>T | NP_277033.1:n.1277+88C>T |