Linked Data
ClinVar Variation Id:
25253
ClinVar RCV Id:
RCV000022192
dbSNP Id:
rs111033755
gnomAD v4:
9-34648826-A-G
PubMed:
PMID:10408771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648826A>G , CM000671.2:g.34648826A>G | GRCh38 |
| NC_000009.11:g.34648823A>G , CM000671.1:g.34648823A>G | GRCh37 |
| NC_000009.10:g.34638823A>G | NCBI36 |
| NG_009029.1:g.7189A>G | |
| NG_028966.1:g.1642A>G | |
| NG_009029.2:g.7238A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*340A>G | ENSP00000509954.1:n.*340A>G | |
| ENST00000378842.8:c.752A>G MANE Select | ENSP00000368119.4:p.Tyr251Cys | |
| ENST00000378842.7:c.752A>G | ENSP00000368119.3:p.Tyr251Cys | |
| ENST00000450095.6:c.425A>G | ENSP00000401956.2:p.Tyr142Cys | |
| ENST00000473506.6:c.*340A>G | ENSP00000432839.2:n.*340A>G | |
| ENST00000473529.5:n.911A>G | ||
| ENST00000487381.5:n.1442A>G | ||
| ENST00000489643.6:n.832A>G | ||
| ENST00000554085.5:c.*496A>G | ENSP00000450419.1:n.*496A>G | |
| ENST00000554550.5:c.*372A>G | ENSP00000451435.1:n.*372A>G | |
| ENST00000554638.5:n.1224A>G | ||
| ENST00000555020.5:n.1213A>G | ||
| ENST00000555086.5:n.756A>G | ||
| ENST00000555754.1:n.97A>G | ||
| ENST00000556244.1:c.739A>G | ||
| ENST00000556278.1:c.432+370A>G | ENSP00000451792.1:n.432+370A>G | |
| ENST00000557706.5:n.1314A>G | ||
| NM_000155.3:c.752A>G | NP_000146.2:p.Tyr251Cys | |
| NM_001258332.1:c.425A>G | NP_001245261.1:p.Tyr142Cys | |
| NM_000155.4:c.752A>G MANE Select | NP_000146.2:p.Tyr251Cys | |
| NM_001258332.2:c.425A>G | NP_001245261.1:p.Tyr142Cys |