Linked Data
ClinVar Variation Id:
1115243
ClinVar RCV Id:
RCV001443231
dbSNP Id:
rs2132344383
MyVariant Identifiers:
chr9:g.34648448A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648451A>C , CM000671.2:g.34648451A>C | GRCh38 |
| NC_000009.11:g.34648448A>C , CM000671.1:g.34648448A>C | GRCh37 |
| NC_000009.10:g.34638448A>C | NCBI36 |
| NG_009029.1:g.6814A>C | |
| NG_028966.1:g.1267A>C | |
| NG_009029.2:g.6863A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*270A>C | ENSP00000509954.1:n.*270A>C | |
| ENST00000378842.8:c.682A>C MANE Select | ENSP00000368119.4:p.Arg228= | |
| ENST00000378842.7:c.682A>C | ENSP00000368119.3:p.Arg228= | |
| ENST00000450095.6:c.355A>C | ENSP00000401956.2:p.Arg119= | |
| ENST00000472111.5:n.938A>C | ||
| ENST00000473506.6:c.*270A>C | ENSP00000432839.2:n.*270A>C | |
| ENST00000473529.5:n.841A>C | ||
| ENST00000487381.5:n.1067A>C | ||
| ENST00000489643.6:n.457A>C | ||
| ENST00000554085.5:c.*426A>C | ENSP00000450419.1:n.*426A>C | |
| ENST00000554550.5:c.*302A>C | ENSP00000451435.1:n.*302A>C | |
| ENST00000554638.5:n.1154A>C | ||
| ENST00000555020.5:n.838A>C | ||
| ENST00000555086.5:n.686A>C | ||
| ENST00000555214.5:n.503A>C | ||
| ENST00000555754.1:n.27A>C | ||
| ENST00000556244.1:c.669A>C | ||
| ENST00000556278.1:c.427A>C | ENSP00000451792.1:p.Arg143= | |
| ENST00000556494.5:n.803A>C | ||
| ENST00000557706.5:n.1244A>C | ||
| NM_000155.3:c.682A>C | NP_000146.2:p.Arg228= | |
| NM_001258332.1:c.355A>C | NP_001245261.1:p.Arg119= | |
| NM_000155.4:c.682A>C MANE Select | NP_000146.2:p.Arg228= | |
| NM_001258332.2:c.355A>C | NP_001245261.1:p.Arg119= |