Linked Data
dbSNP Id:
rs1554789148
gnomAD v4:
9-133436843-C-T
MyVariant Identifiers:
chr9:g.133436843C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133436843C>T , CM000671.2:g.133436843C>T | GRCh38 |
| NC_000009.10:g.135291784C>T | NCBI36 |
| NG_011934.2:g.27505C>T , LRG_544:g.27505C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.1323C>T MANE Select | ENSP00000347927.2:p.Thr441= | |
| ENST00000355699.6:c.1323C>T | ENSP00000347927.2:p.Thr441= | |
| ENST00000356589.6:c.1230C>T | ENSP00000348997.2:p.Thr410= | |
| ENST00000371916.5:c.579C>T | ENSP00000360984.2:p.Thr193= | |
| ENST00000371929.7:c.1323C>T | ENSP00000360997.3:p.Thr441= | |
| ENST00000474918.1:c.*127C>T | ENSP00000435305.1:n.*127C>T | |
| ENST00000485925.5:n.974-2523C>T | ||
| ENST00000495234.5:c.*607C>T | ENSP00000435274.1:n.*607C>T | |
| NM_139025.4:c.1323C>T , LRG_544t1:c.1323C>T | NP_620594.1:p.Thr441= | |
| NM_139026.4:c.1230C>T | NP_620595.1:p.Thr410= | |
| NM_139027.4:c.1323C>T | NP_620596.2:p.Thr441= | |
| NR_024514.2:n.993-2523C>T | ||
| XM_011518174.1:c.933C>T | XP_011516476.1:p.Thr311= | |
| XM_011518175.1:c.1323C>T | XP_011516477.1:p.Thr441= | |
| XM_011518176.1:c.339C>T | XP_011516478.1:p.Thr113= | |
| XM_011518177.1:c.333C>T | XP_011516479.1:p.Thr111= | |
| XM_011518178.1:c.-13C>T | XP_011516480.1:n.-13C>T | |
| XM_011518179.1:c.109C>T | XP_011516481.1:p.Pro37Ser | |
| XM_011518180.1:c.687-8020C>T | XP_011516482.1:n.687-8020C>T | |
| XM_011518176.3:c.339C>T | XP_011516478.1:p.Thr113= | |
| XM_011518178.2:c.-13C>T | XP_011516480.1:n.-13C>T | |
| XM_017014232.1:c.1311C>T | XP_016869721.1:p.Thr437= | |
| XM_017014233.1:c.933C>T | XP_016869722.1:p.Thr311= | |
| XM_017014234.2:c.333C>T | XP_016869723.1:p.Thr111= | |
| XM_017014235.1:c.1323C>T | XP_016869724.1:p.Thr441= | |
| XR_001746171.1:n.2548C>T | ||
| NM_139026.5:c.1230C>T | NP_620595.1:p.Thr410= | |
| NM_139027.5:c.1323C>T | NP_620596.2:p.Thr441= | |
| NM_139025.5:c.1323C>T | NP_620594.1:p.Thr441= | |
| NM_139026.6:c.1230C>T | NP_620595.1:p.Thr410= | |
| NM_139027.6:c.1323C>T MANE Select | NP_620596.2:p.Thr441= | |
| NR_024514.3:n.995-2523C>T |