Linked Data
ClinVar Variation Id:
25309
dbSNP Id:
rs111033802
ExAC:
9:34649485 G / A
gnomAD v2:
9-34649485-G-A
gnomAD v3:
9-34649488-G-A
gnomAD v4:
9-34649488-G-A
PubMed:
PMID:11261429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649488G>A , CM000671.2:g.34649488G>A | GRCh38 |
| NC_000009.11:g.34649485G>A , CM000671.1:g.34649485G>A | GRCh37 |
| NC_000009.10:g.34639485G>A | NCBI36 |
| NG_009029.1:g.7851G>A | |
| NG_028966.1:g.2304G>A | |
| NG_009029.2:g.7900G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*571G>A | ENSP00000509954.1:n.*571G>A | |
| ENST00000378842.8:c.983G>A MANE Select | ENSP00000368119.4:p.Arg328His | |
| ENST00000378842.7:c.983G>A | ENSP00000368119.3:p.Arg328His | |
| ENST00000450095.6:c.656G>A | ENSP00000401956.2:p.Arg219His | |
| ENST00000488412.2:n.567G>A | ||
| ENST00000489643.6:n.1391G>A | ||
| ENST00000554550.5:c.*603G>A | ENSP00000451435.1:n.*603G>A | |
| ENST00000554638.5:n.1455G>A | ||
| ENST00000555020.5:n.1772G>A | ||
| ENST00000555754.1:n.431G>A | ||
| ENST00000556278.1:c.432+1032G>A | ENSP00000451792.1:n.432+1032G>A | |
| ENST00000557706.5:n.1558G>A | ||
| NM_000155.3:c.983G>A | NP_000146.2:p.Arg328His | |
| NM_001258332.1:c.656G>A | NP_001245261.1:p.Arg219His | |
| NM_000155.4:c.983G>A MANE Select | NP_000146.2:p.Arg328His | |
| NM_001258332.2:c.656G>A | NP_001245261.1:p.Arg219His |