Linked Data
ClinVar Variation Id:
1160809
ClinVar RCV Id:
RCV001505099
dbSNP Id:
rs2132342720
MyVariant Identifiers:
chr9:g.34647688T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647691T>C , CM000671.2:g.34647691T>C | GRCh38 |
| NC_000009.11:g.34647688T>C , CM000671.1:g.34647688T>C | GRCh37 |
| NC_000009.10:g.34637688T>C | NCBI36 |
| NG_009029.1:g.6054T>C | |
| NG_028966.1:g.507T>C | |
| NG_009029.2:g.6103T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.328+124T>C | ENSP00000509954.1:n.328+124T>C | |
| ENST00000378842.8:c.363T>C MANE Select | ENSP00000368119.4:p.Ser121= | |
| ENST00000378842.7:c.363T>C | ENSP00000368119.3:p.Ser121= | |
| ENST00000450095.6:c.51-141T>C | ENSP00000401956.2:n.51-141T>C | |
| ENST00000465543.6:n.702T>C | ||
| ENST00000472111.5:n.493T>C | ||
| ENST00000473506.6:c.314T>C | ENSP00000432839.2:p.Leu105Pro | |
| ENST00000473529.5:n.499T>C | ||
| ENST00000485531.1:n.678T>C | ||
| ENST00000487381.5:n.622T>C | ||
| ENST00000489643.6:n.283-424T>C | ||
| ENST00000554085.5:c.*107T>C | ENSP00000450419.1:n.*107T>C | |
| ENST00000554139.5:n.416T>C | ||
| ENST00000554330.5:n.400T>C | ||
| ENST00000554550.5:c.253-141T>C | ENSP00000451435.1:n.253-141T>C | |
| ENST00000554638.5:n.709T>C | ||
| ENST00000554897.5:c.253-141T>C | ENSP00000450942.1:n.253-141T>C | |
| ENST00000554944.5:n.433T>C | ||
| ENST00000555020.5:n.393T>C | ||
| ENST00000555086.5:n.367T>C | ||
| ENST00000555214.5:n.262-357T>C | ||
| ENST00000556157.1:n.487T>C | ||
| ENST00000556244.1:c.350T>C | ||
| ENST00000556278.1:c.253-424T>C | ENSP00000451792.1:n.253-424T>C | |
| ENST00000556403.5:n.465T>C | ||
| ENST00000556494.5:n.484T>C | ||
| ENST00000557541.5:n.507T>C | ||
| ENST00000557706.5:n.799T>C | ||
| NM_000155.3:c.363T>C | NP_000146.2:p.Ser121= | |
| NM_001258332.1:c.51-141T>C | NP_001245261.1:n.51-141T>C | |
| NM_000155.4:c.363T>C MANE Select | NP_000146.2:p.Ser121= | |
| NM_001258332.2:c.51-141T>C | NP_001245261.1:n.51-141T>C |