Linked Data
ClinVar Variation Id:
92522
dbSNP Id:
rs368166217
ExAC:
9:34648843 C / T
gnomAD v2:
9-34648843-C-T
gnomAD v3:
9-34648846-C-T
gnomAD v4:
9-34648846-C-T
PubMed:
PMID:11261429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648846C>T , CM000671.2:g.34648846C>T | GRCh38 |
| NC_000009.11:g.34648843C>T , CM000671.1:g.34648843C>T | GRCh37 |
| NC_000009.10:g.34638843C>T | NCBI36 |
| NG_028966.1:g.1662C>T | |
| NG_009029.2:g.7258C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*360C>T | ENSP00000509954.1:n.*360C>T | |
| ENST00000378842.8:c.772C>T MANE Select | ENSP00000368119.4:p.Arg258Cys | |
| ENST00000378842.7:c.772C>T | ENSP00000368119.3:p.Arg258Cys | |
| ENST00000450095.6:c.445C>T | ENSP00000401956.2:p.Arg149Cys | |
| ENST00000473506.6:c.*360C>T | ENSP00000432839.2:n.*360C>T | |
| ENST00000489643.6:n.852C>T | ||
| ENST00000554085.5:c.*516C>T | ENSP00000450419.1:n.*516C>T | |
| ENST00000554550.5:c.*392C>T | ENSP00000451435.1:n.*392C>T | |
| ENST00000554638.5:n.1244C>T | ||
| ENST00000555020.5:n.1233C>T | ||
| ENST00000555086.5:n.776C>T | ||
| ENST00000555754.1:n.117C>T | ||
| ENST00000556244.1:c.759C>T | ||
| ENST00000556278.1:c.432+390C>T | ENSP00000451792.1:n.432+390C>T | |
| ENST00000557706.5:n.1334C>T | ||
| NM_000155.3:c.772C>T | NP_000146.2:p.Arg258Cys | |
| NM_001258332.1:c.445C>T | NP_001245261.1:p.Arg149Cys | |
| NM_000155.4:c.772C>T MANE Select | NP_000146.2:p.Arg258Cys | |
| NM_001258332.2:c.445C>T | NP_001245261.1:p.Arg149Cys |