Linked Data
ClinVar Variation Id:
5808
ClinVar RCV Id:
RCV000006164
dbSNP Id:
rs121908474
gnomAD v3:
9-133456138-G-A
gnomAD v4:
9-133456138-G-A
MyVariant Identifiers:
chr9:g.133456138G>A (hg38)
PubMed:
PMID:11586351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133456138G>A , CM000671.2:g.133456138G>A | GRCh38 |
| NC_000009.10:g.135311081G>A | NCBI36 |
| NG_011934.2:g.46800G>A , LRG_544:g.46800G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355699.7:c.3470G>A MANE Select | ENSP00000347927.2:p.Cys1157Tyr | |
| ENST00000355699.6:c.3470G>A | ENSP00000347927.2:p.Cys1157Tyr | |
| ENST00000356589.6:c.3377G>A | ENSP00000348997.2:p.Cys1126Tyr | |
| ENST00000371910.1:c.26G>A | ENSP00000360978.1:p.Cys9Tyr | |
| ENST00000371916.5:c.*939G>A | ENSP00000360984.2:n.*939G>A | |
| ENST00000371929.7:c.3638G>A | ENSP00000360997.3:p.Cys1213Tyr | |
| ENST00000485925.5:n.2286G>A | ||
| NM_139025.4:c.3638G>A , LRG_544t1:c.3638G>A | NP_620594.1:p.Cys1213Tyr | |
| NM_139026.4:c.3377G>A | NP_620595.1:p.Cys1126Tyr | |
| NM_139027.4:c.3470G>A | NP_620596.2:p.Cys1157Tyr | |
| NR_024514.2:n.2305G>A | ||
| XM_011518174.1:c.3248G>A | XP_011516476.1:p.Cys1083Tyr | |
| XM_011518175.1:c.*45G>A | XP_011516477.1:n.*45G>A | |
| XM_011518176.1:c.2654G>A | XP_011516478.1:p.Cys885Tyr | |
| XM_011518177.1:c.2648G>A | XP_011516479.1:p.Cys883Tyr | |
| XM_011518178.1:c.2303G>A | XP_011516480.1:p.Cys768Tyr | |
| XM_011518179.1:c.2303G>A | XP_011516481.1:p.Cys768Tyr | |
| XM_011518180.1:c.1904G>A | XP_011516482.1:p.Cys635Tyr | |
| XM_011518176.3:c.2654G>A | XP_011516478.1:p.Cys885Tyr | |
| XM_011518178.2:c.2303G>A | XP_011516480.1:p.Cys768Tyr | |
| XM_017014232.1:c.3626G>A | XP_016869721.1:p.Cys1209Tyr | |
| XM_017014233.1:c.3248G>A | XP_016869722.1:p.Cys1083Tyr | |
| XM_017014234.2:c.2648G>A | XP_016869723.1:p.Cys883Tyr | |
| NM_139026.5:c.3377G>A | NP_620595.1:p.Cys1126Tyr | |
| NM_139027.5:c.3470G>A | NP_620596.2:p.Cys1157Tyr | |
| NM_139025.5:c.3638G>A | NP_620594.1:p.Cys1213Tyr | |
| NM_139026.6:c.3377G>A | NP_620595.1:p.Cys1126Tyr | |
| NM_139027.6:c.3470G>A MANE Select | NP_620596.2:p.Cys1157Tyr | |
| NR_024514.3:n.2307G>A |