Linked Data
ClinVar Variation Id:
5809
ClinVar RCV Id:
RCV002512822
dbSNP Id:
rs121908475
gnomAD v3:
9-133442504-C-T
gnomAD v4:
9-133442504-C-T
COSMIC:
COSM3788200
MyVariant Identifiers:
chr9:g.133442504C>T (hg38)
PubMed:
PMID:11586351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133442504C>T , CM000671.2:g.133442504C>T | GRCh38 |
| NC_000009.10:g.135297446C>T | NCBI36 |
| NG_011934.2:g.33166C>T , LRG_544:g.33166C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355699.7:c.2074C>T MANE Select | ENSP00000347927.2:p.Arg692Cys | |
| ENST00000355699.6:c.2074C>T | ENSP00000347927.2:p.Arg692Cys | |
| ENST00000356589.6:c.1981C>T | ENSP00000348997.2:p.Arg661Cys | |
| ENST00000371916.5:c.1224+1979C>T | ENSP00000360984.2:n.1224+1979C>T | |
| ENST00000371929.7:c.2074C>T | ENSP00000360997.3:p.Arg692Cys | |
| ENST00000474918.1:c.*773-872C>T | ENSP00000435305.1:n.*773-872C>T | |
| ENST00000485925.5:n.1236+1979C>T | ||
| ENST00000495234.5:c.*1252+1979C>T | ENSP00000435274.1:n.*1252+1979C>T | |
| NM_139025.4:c.2074C>T , LRG_544t1:c.2074C>T | NP_620594.1:p.Arg692Cys | |
| NM_139026.4:c.1981C>T | NP_620595.1:p.Arg661Cys | |
| NM_139027.4:c.2074C>T | NP_620596.2:p.Arg692Cys | |
| NR_024514.2:n.1255+1979C>T | ||
| XM_011518174.1:c.1684C>T | XP_011516476.1:p.Arg562Cys | |
| XM_011518175.1:c.2074C>T | XP_011516477.1:p.Arg692Cys | |
| XM_011518176.1:c.1090C>T | XP_011516478.1:p.Arg364Cys | |
| XM_011518177.1:c.1084C>T | XP_011516479.1:p.Arg362Cys | |
| XM_011518178.1:c.739C>T | XP_011516480.1:p.Arg247Cys | |
| XM_011518179.1:c.739C>T | XP_011516481.1:p.Arg247Cys | |
| XM_011518180.1:c.687-2359C>T | XP_011516482.1:n.687-2359C>T | |
| XM_011518176.3:c.1090C>T | XP_011516478.1:p.Arg364Cys | |
| XM_011518178.2:c.739C>T | XP_011516480.1:p.Arg247Cys | |
| XM_017014232.1:c.2062C>T | XP_016869721.1:p.Arg688Cys | |
| XM_017014233.1:c.1684C>T | XP_016869722.1:p.Arg562Cys | |
| XM_017014234.2:c.1084C>T | XP_016869723.1:p.Arg362Cys | |
| XM_017014235.1:c.2074C>T | XP_016869724.1:p.Arg692Cys | |
| XR_001746171.1:n.3193+1979C>T | ||
| NM_139026.5:c.1981C>T | NP_620595.1:p.Arg661Cys | |
| NM_139027.5:c.2074C>T | NP_620596.2:p.Arg692Cys | |
| NM_139025.5:c.2074C>T | NP_620594.1:p.Arg692Cys | |
| NM_139026.6:c.1981C>T | NP_620595.1:p.Arg661Cys | |
| NM_139027.6:c.2074C>T MANE Select | NP_620596.2:p.Arg692Cys | |
| NR_024514.3:n.1257+1979C>T |