Linked Data
ClinVar Variation Id:
1641887
ClinVar RCV Id:
RCV002143035
dbSNP Id:
rs1821162871
gnomAD v4:
9-34648348-T-C
MyVariant Identifiers:
chr9:g.34648345T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648348T>C , CM000671.2:g.34648348T>C | GRCh38 |
| NC_000009.11:g.34648345T>C , CM000671.1:g.34648345T>C | GRCh37 |
| NC_000009.10:g.34638345T>C | NCBI36 |
| NG_009029.1:g.6711T>C | |
| NG_028966.1:g.1164T>C | |
| NG_009029.2:g.6760T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*167T>C | ENSP00000509954.1:n.*167T>C | |
| ENST00000378842.8:c.579T>C MANE Select | ENSP00000368119.4:p.Ser193= | |
| ENST00000378842.7:c.579T>C | ENSP00000368119.3:p.Ser193= | |
| ENST00000450095.6:c.252T>C | ENSP00000401956.2:p.Ser84= | |
| ENST00000472111.5:n.835T>C | ||
| ENST00000473506.6:c.*167T>C | ENSP00000432839.2:n.*167T>C | |
| ENST00000473529.5:n.738T>C | ||
| ENST00000485531.1:n.1173T>C | ||
| ENST00000487381.5:n.964T>C | ||
| ENST00000489643.6:n.354T>C | ||
| ENST00000554085.5:c.*323T>C | ENSP00000450419.1:n.*323T>C | |
| ENST00000554139.5:n.825T>C | ||
| ENST00000554550.5:c.*199T>C | ENSP00000451435.1:n.*199T>C | |
| ENST00000554638.5:n.1051T>C | ||
| ENST00000554897.5:c.*266T>C | ENSP00000450942.1:n.*266T>C | |
| ENST00000554944.5:n.928T>C | ||
| ENST00000555020.5:n.735T>C | ||
| ENST00000555086.5:n.583T>C | ||
| ENST00000555214.5:n.400T>C | ||
| ENST00000556244.1:c.566T>C | ||
| ENST00000556278.1:c.324T>C | ENSP00000451792.1:p.Ser108= | |
| ENST00000556494.5:n.700T>C | ||
| ENST00000557706.5:n.1141T>C | ||
| NM_000155.3:c.579T>C | NP_000146.2:p.Ser193= | |
| NM_001258332.1:c.252T>C | NP_001245261.1:p.Ser84= | |
| NM_000155.4:c.579T>C MANE Select | NP_000146.2:p.Ser193= | |
| NM_001258332.2:c.252T>C | NP_001245261.1:p.Ser84= |