Linked Data
ClinVar Variation Id:
1691431
dbSNP Id:
rs111033809
ExAC:
9:34649503 A / G
gnomAD v2:
9-34649503-A-G
gnomAD v4:
9-34649506-A-G
PubMed:
PMID:1427861
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649506A>G , CM000671.2:g.34649506A>G | GRCh38 |
| NC_000009.11:g.34649503A>G , CM000671.1:g.34649503A>G | GRCh37 |
| NC_000009.10:g.34639503A>G | NCBI36 |
| NG_009029.1:g.7869A>G | |
| NG_028966.1:g.2322A>G | |
| NG_009029.2:g.7918A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*589A>G | ENSP00000509954.1:n.*589A>G | |
| ENST00000378842.8:c.1001A>G MANE Select | ENSP00000368119.4:p.Lys334Arg | |
| ENST00000378842.7:c.1001A>G | ENSP00000368119.3:p.Lys334Arg | |
| ENST00000450095.6:c.674A>G | ENSP00000401956.2:p.Lys225Arg | |
| ENST00000488412.2:n.585A>G | ||
| ENST00000489643.6:n.1409A>G | ||
| ENST00000554550.5:c.*621A>G | ENSP00000451435.1:n.*621A>G | |
| ENST00000554638.5:n.1473A>G | ||
| ENST00000555020.5:n.1790A>G | ||
| ENST00000555754.1:n.449A>G | ||
| ENST00000556278.1:c.432+1050A>G | ENSP00000451792.1:n.432+1050A>G | |
| ENST00000557706.5:n.1576A>G | ||
| NM_000155.3:c.1001A>G | NP_000146.2:p.Lys334Arg | |
| NM_001258332.1:c.674A>G | NP_001245261.1:p.Lys225Arg | |
| NM_000155.4:c.1001A>G MANE Select | NP_000146.2:p.Lys334Arg | |
| NM_001258332.2:c.674A>G | NP_001245261.1:p.Lys225Arg |