Linked Data
ClinVar Variation Id:
1023928
ClinVar RCV Id:
RCV001324047
dbSNP Id:
rs575910839
gnomAD v3:
1-77942213-C-T
gnomAD v4:
1-77942213-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77942213C>T , CM000663.2:g.77942213C>T | GRCh38 |
| NC_000001.10:g.78407898C>T , CM000663.1:g.78407898C>T | GRCh37 |
| NC_000001.9:g.78180486C>T | NCBI36 |
| NG_016625.1:g.58699C>T , LRG_442:g.58699C>T | |
| NG_033243.2:g.41881G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334785.12:c.1659+5C>T MANE Select | ENSP00000333938.7:n.1659+5C>T | |
| ENST00000330010.12:c.1467+5C>T | ENSP00000327363.8:n.1467+5C>T | |
| ENST00000334785.11:c.1659+5C>T | ENSP00000333938.7:n.1659+5C>T | |
| ENST00000342754.5:c.1358+5C>T | ||
| ENST00000470735.1:n.498+5C>T | ||
| ENST00000480732.2:n.1233+5C>T | ||
| NM_001172309.1:c.1467+5C>T | NP_001165780.1:n.1467+5C>T | |
| NM_144573.3:c.1659+5C>T , LRG_442t1:c.1659+5C>T | NP_653174.3:n.1659+5C>T | |
| XM_005271322.2:c.1659+5C>T | XP_005271379.1:n.1659+5C>T | |
| XM_005271323.2:c.1617+5C>T | XP_005271380.1:n.1617+5C>T | |
| XM_005271324.3:c.1467+5C>T | XP_005271381.1:n.1467+5C>T | |
| XM_005271325.2:c.1437+5C>T | XP_005271382.1:n.1437+5C>T | |
| XM_005271326.2:c.1425+5C>T | XP_005271383.1:n.1425+5C>T | |
| XM_005271327.2:c.1242+5C>T | XP_005271384.1:n.1242+5C>T | |
| XM_005271322.4:c.1659+5C>T | XP_005271379.1:n.1659+5C>T | |
| XM_005271323.4:c.1617+5C>T | XP_005271380.1:n.1617+5C>T | |
| XM_005271324.5:c.1467+5C>T | XP_005271381.1:n.1467+5C>T | |
| XM_005271325.4:c.1437+5C>T | XP_005271382.1:n.1437+5C>T | |
| XM_005271326.4:c.1425+5C>T | XP_005271383.1:n.1425+5C>T | |
| XM_005271327.4:c.1242+5C>T | XP_005271384.1:n.1242+5C>T | |
| NM_001172309.2:c.1467+5C>T | NP_001165780.1:n.1467+5C>T | |
| NM_144573.4:c.1659+5C>T MANE Select | NP_653174.3:n.1659+5C>T |