Linked Data
ClinVar Variation Id:
769360
ClinVar RCV Id:
RCV000948363
dbSNP Id:
rs3124767
gnomAD v3:
9-133443421-T-C
gnomAD v4:
9-133443421-T-C
MyVariant Identifiers:
chr9:g.133443421T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133443421T>C , CM000671.2:g.133443421T>C | GRCh38 |
| NG_011934.2:g.34083T>C , LRG_544:g.34083T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.2280T>C MANE Select | ENSP00000347927.2:p.Gly760= | |
| ENST00000355699.6:c.2280T>C | ENSP00000347927.2:p.Gly760= | |
| ENST00000356589.6:c.2187T>C | ENSP00000348997.2:p.Gly729= | |
| ENST00000371916.5:c.1225-1442T>C | ENSP00000360984.2:n.1225-1442T>C | |
| ENST00000371929.7:c.2280T>C | ENSP00000360997.3:p.Gly760= | |
| ENST00000474918.1:c.*818T>C | ENSP00000435305.1:n.*818T>C | |
| ENST00000485925.5:n.1237-1442T>C | ||
| ENST00000495234.5:c.*1253-1442T>C | ENSP00000435274.1:n.*1253-1442T>C | |
| NM_139025.4:c.2280T>C , LRG_544t1:c.2280T>C | NP_620594.1:p.Gly760= | |
| NM_139026.4:c.2187T>C | NP_620595.1:p.Gly729= | |
| NM_139027.4:c.2280T>C | NP_620596.2:p.Gly760= | |
| NR_024514.2:n.1256-1442T>C | ||
| XM_011518174.1:c.1890T>C | XP_011516476.1:p.Gly630= | |
| XM_011518175.1:c.2280T>C | XP_011516477.1:p.Gly760= | |
| XM_011518176.1:c.1296T>C | XP_011516478.1:p.Gly432= | |
| XM_011518177.1:c.1290T>C | XP_011516479.1:p.Gly430= | |
| XM_011518178.1:c.945T>C | XP_011516480.1:p.Gly315= | |
| XM_011518179.1:c.945T>C | XP_011516481.1:p.Gly315= | |
| XM_011518180.1:c.687-1442T>C | XP_011516482.1:n.687-1442T>C | |
| XM_011518176.3:c.1296T>C | XP_011516478.1:p.Gly432= | |
| XM_011518178.2:c.945T>C | XP_011516480.1:p.Gly315= | |
| XM_017014232.1:c.2268T>C | XP_016869721.1:p.Gly756= | |
| XM_017014233.1:c.1890T>C | XP_016869722.1:p.Gly630= | |
| XM_017014234.2:c.1290T>C | XP_016869723.1:p.Gly430= | |
| XM_017014235.1:c.2234+678T>C | XP_016869724.1:n.2234+678T>C | |
| XR_001746171.1:n.3194-1442T>C | ||
| NM_139026.5:c.2187T>C | NP_620595.1:p.Gly729= | |
| NM_139027.5:c.2280T>C | NP_620596.2:p.Gly760= | |
| NM_139025.5:c.2280T>C | NP_620594.1:p.Gly760= | |
| NM_139026.6:c.2187T>C | NP_620595.1:p.Gly729= | |
| NM_139027.6:c.2280T>C MANE Select | NP_620596.2:p.Gly760= | |
| NR_024514.3:n.1258-1442T>C |