Linked Data
dbSNP Id:
rs1322281819
gnomAD v2:
1-78407903-T-G
gnomAD v3:
1-77942218-T-G
gnomAD v4:
1-77942218-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77942218T>G , CM000663.2:g.77942218T>G | GRCh38 |
| NC_000001.10:g.78407903T>G , CM000663.1:g.78407903T>G | GRCh37 |
| NC_000001.9:g.78180491T>G | NCBI36 |
| NG_016625.1:g.58704T>G , LRG_442:g.58704T>G | |
| NG_033243.2:g.41876A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334785.12:c.1659+10T>G MANE Select | ENSP00000333938.7:n.1659+10T>G | |
| ENST00000330010.12:c.1467+10T>G | ENSP00000327363.8:n.1467+10T>G | |
| ENST00000334785.11:c.1659+10T>G | ENSP00000333938.7:n.1659+10T>G | |
| ENST00000342754.5:c.1358+10T>G | ||
| ENST00000470735.1:n.498+10T>G | ||
| ENST00000480732.2:n.1233+10T>G | ||
| NM_001172309.1:c.1467+10T>G | NP_001165780.1:n.1467+10T>G | |
| NM_144573.3:c.1659+10T>G , LRG_442t1:c.1659+10T>G | NP_653174.3:n.1659+10T>G | |
| XM_005271322.2:c.1659+10T>G | XP_005271379.1:n.1659+10T>G | |
| XM_005271323.2:c.1617+10T>G | XP_005271380.1:n.1617+10T>G | |
| XM_005271324.3:c.1467+10T>G | XP_005271381.1:n.1467+10T>G | |
| XM_005271325.2:c.1437+10T>G | XP_005271382.1:n.1437+10T>G | |
| XM_005271326.2:c.1425+10T>G | XP_005271383.1:n.1425+10T>G | |
| XM_005271327.2:c.1242+10T>G | XP_005271384.1:n.1242+10T>G | |
| XM_005271322.4:c.1659+10T>G | XP_005271379.1:n.1659+10T>G | |
| XM_005271323.4:c.1617+10T>G | XP_005271380.1:n.1617+10T>G | |
| XM_005271324.5:c.1467+10T>G | XP_005271381.1:n.1467+10T>G | |
| XM_005271325.4:c.1437+10T>G | XP_005271382.1:n.1437+10T>G | |
| XM_005271326.4:c.1425+10T>G | XP_005271383.1:n.1425+10T>G | |
| XM_005271327.4:c.1242+10T>G | XP_005271384.1:n.1242+10T>G | |
| NM_001172309.2:c.1467+10T>G | NP_001165780.1:n.1467+10T>G | |
| NM_144573.4:c.1659+10T>G MANE Select | NP_653174.3:n.1659+10T>G |