Linked Data
ClinVar Variation Id:
379656
ClinVar RCV Id:
RCV000435056
dbSNP Id:
rs1057520680
MyVariant Identifiers:
chr9:g.133449966G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133449966G>A , CM000671.2:g.133449966G>A | GRCh38 |
| NC_000009.10:g.135304908G>A | NCBI36 |
| NG_011934.2:g.40628G>A , LRG_544:g.40628G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.3044+1G>A MANE Select | ENSP00000347927.2:n.3044+1G>A | |
| ENST00000355699.6:c.3044+1G>A | ENSP00000347927.2:n.3044+1G>A | |
| ENST00000356589.6:c.2951+1G>A | ENSP00000348997.2:n.2951+1G>A | |
| ENST00000371916.5:c.*513+1G>A | ENSP00000360984.2:n.*513+1G>A | |
| ENST00000371929.7:c.3044+1G>A | ENSP00000360997.3:n.3044+1G>A | |
| ENST00000485925.5:n.1860+1G>A | ||
| NM_139025.4:c.3044+1G>A , LRG_544t1:c.3044+1G>A | NP_620594.1:n.3044+1G>A | |
| NM_139026.4:c.2951+1G>A | NP_620595.1:n.2951+1G>A | |
| NM_139027.4:c.3044+1G>A | NP_620596.2:n.3044+1G>A | |
| NR_024514.2:n.1879+1G>A | ||
| XM_011518174.1:c.2654+1G>A | XP_011516476.1:n.2654+1G>A | |
| XM_011518175.1:c.3044+1G>A | XP_011516477.1:n.3044+1G>A | |
| XM_011518176.1:c.2060+1G>A | XP_011516478.1:n.2060+1G>A | |
| XM_011518177.1:c.2054+1G>A | XP_011516479.1:n.2054+1G>A | |
| XM_011518178.1:c.1709+1G>A | XP_011516480.1:n.1709+1G>A | |
| XM_011518179.1:c.1709+1G>A | XP_011516481.1:n.1709+1G>A | |
| XM_011518180.1:c.1310+1G>A | XP_011516482.1:n.1310+1G>A | |
| XM_011518176.3:c.2060+1G>A | XP_011516478.1:n.2060+1G>A | |
| XM_011518178.2:c.1709+1G>A | XP_011516480.1:n.1709+1G>A | |
| XM_017014232.1:c.3032+1G>A | XP_016869721.1:n.3032+1G>A | |
| XM_017014233.1:c.2654+1G>A | XP_016869722.1:n.2654+1G>A | |
| XM_017014234.2:c.2054+1G>A | XP_016869723.1:n.2054+1G>A | |
| XR_001746171.1:n.3817+1G>A | ||
| NM_139026.5:c.2951+1G>A | NP_620595.1:n.2951+1G>A | |
| NM_139027.5:c.3044+1G>A | NP_620596.2:n.3044+1G>A | |
| NM_139025.5:c.3044+1G>A | NP_620594.1:n.3044+1G>A | |
| NM_139026.6:c.2951+1G>A | NP_620595.1:n.2951+1G>A | |
| NM_139027.6:c.3044+1G>A MANE Select | NP_620596.2:n.3044+1G>A | |
| NR_024514.3:n.1881+1G>A |