Linked Data
dbSNP Id:
rs1281428632
gnomAD v3:
9-133454729-G-C
gnomAD v4:
9-133454729-G-C
MyVariant Identifiers:
chr9:g.133454729G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133454729G>C , CM000671.2:g.133454729G>C | GRCh38 |
| NC_000009.10:g.135309672G>C | NCBI36 |
| NG_011934.2:g.45391G>C , LRG_544:g.45391G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.3249+110G>C MANE Select | ENSP00000347927.2:n.3249+110G>C | |
| ENST00000355699.6:c.3249+110G>C | ENSP00000347927.2:n.3249+110G>C | |
| ENST00000356589.6:c.3156+110G>C | ENSP00000348997.2:n.3156+110G>C | |
| ENST00000371916.5:c.*718+110G>C | ENSP00000360984.2:n.*718+110G>C | |
| ENST00000371929.7:c.3249+110G>C | ENSP00000360997.3:n.3249+110G>C | |
| ENST00000485925.5:n.2065+110G>C | ||
| NM_139025.4:c.3249+110G>C , LRG_544t1:c.3249+110G>C | NP_620594.1:n.3249+110G>C | |
| NM_139026.4:c.3156+110G>C | NP_620595.1:n.3156+110G>C | |
| NM_139027.4:c.3249+110G>C | NP_620596.2:n.3249+110G>C | |
| NR_024514.2:n.2084+110G>C | ||
| XM_011518174.1:c.2859+110G>C | XP_011516476.1:n.2859+110G>C | |
| XM_011518175.1:c.3249+110G>C | XP_011516477.1:n.3249+110G>C | |
| XM_011518176.1:c.2265+110G>C | XP_011516478.1:n.2265+110G>C | |
| XM_011518177.1:c.2259+110G>C | XP_011516479.1:n.2259+110G>C | |
| XM_011518178.1:c.1914+110G>C | XP_011516480.1:n.1914+110G>C | |
| XM_011518179.1:c.1914+110G>C | XP_011516481.1:n.1914+110G>C | |
| XM_011518180.1:c.1515+110G>C | XP_011516482.1:n.1515+110G>C | |
| XM_011518176.3:c.2265+110G>C | XP_011516478.1:n.2265+110G>C | |
| XM_011518178.2:c.1914+110G>C | XP_011516480.1:n.1914+110G>C | |
| XM_017014232.1:c.3237+110G>C | XP_016869721.1:n.3237+110G>C | |
| XM_017014233.1:c.2859+110G>C | XP_016869722.1:n.2859+110G>C | |
| XM_017014234.2:c.2259+110G>C | XP_016869723.1:n.2259+110G>C | |
| NM_139026.5:c.3156+110G>C | NP_620595.1:n.3156+110G>C | |
| NM_139027.5:c.3249+110G>C | NP_620596.2:n.3249+110G>C | |
| NM_139025.5:c.3249+110G>C | NP_620594.1:n.3249+110G>C | |
| NM_139026.6:c.3156+110G>C | NP_620595.1:n.3156+110G>C | |
| NM_139027.6:c.3249+110G>C MANE Select | NP_620596.2:n.3249+110G>C | |
| NR_024514.3:n.2086+110G>C |