Linked Data
ClinVar Variation Id:
2014793
ClinVar RCV Id:
RCV002839137
MyVariant Identifiers:
chr9:g.34648402G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648405G>A , CM000671.2:g.34648405G>A | GRCh38 |
| NC_000009.11:g.34648402G>A , CM000671.1:g.34648402G>A | GRCh37 |
| NC_000009.10:g.34638402G>A | NCBI36 |
| NG_009029.1:g.6768G>A | |
| NG_028966.1:g.1221G>A | |
| NG_009029.2:g.6817G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*224G>A | ENSP00000509954.1:n.*224G>A | |
| ENST00000378842.8:c.636G>A MANE Select | ENSP00000368119.4:p.Gln212= | |
| ENST00000378842.7:c.636G>A | ENSP00000368119.3:p.Gln212= | |
| ENST00000450095.6:c.309G>A | ENSP00000401956.2:p.Gln103= | |
| ENST00000472111.5:n.892G>A | ||
| ENST00000473506.6:c.*224G>A | ENSP00000432839.2:n.*224G>A | |
| ENST00000473529.5:n.795G>A | ||
| ENST00000487381.5:n.1021G>A | ||
| ENST00000489643.6:n.411G>A | ||
| ENST00000554085.5:c.*380G>A | ENSP00000450419.1:n.*380G>A | |
| ENST00000554550.5:c.*256G>A | ENSP00000451435.1:n.*256G>A | |
| ENST00000554638.5:n.1108G>A | ||
| ENST00000555020.5:n.792G>A | ||
| ENST00000555086.5:n.640G>A | ||
| ENST00000555214.5:n.457G>A | ||
| ENST00000556244.1:c.623G>A | ||
| ENST00000556278.1:c.381G>A | ENSP00000451792.1:p.Gln127= | |
| ENST00000556494.5:n.757G>A | ||
| ENST00000557706.5:n.1198G>A | ||
| NM_000155.3:c.636G>A | NP_000146.2:p.Gln212= | |
| NM_001258332.1:c.309G>A | NP_001245261.1:p.Gln103= | |
| NM_000155.4:c.636G>A MANE Select | NP_000146.2:p.Gln212= | |
| NM_001258332.2:c.309G>A | NP_001245261.1:p.Gln103= |