Linked Data
ClinVar Variation Id:
25247
dbSNP Id:
rs111033754
gnomAD v2:
9-34648763-G-A
gnomAD v3:
9-34648766-G-A
gnomAD v4:
9-34648766-G-A
PubMed:
PMID:7550229
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648766G>A , CM000671.2:g.34648766G>A | GRCh38 |
| NC_000009.11:g.34648763G>A , CM000671.1:g.34648763G>A | GRCh37 |
| NC_000009.10:g.34638763G>A | NCBI36 |
| NG_009029.1:g.7129G>A | |
| NG_028966.1:g.1582G>A | |
| NG_009029.2:g.7178G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*280G>A | ENSP00000509954.1:n.*280G>A | |
| ENST00000378842.8:c.692G>A MANE Select | ENSP00000368119.4:p.Arg231His | |
| ENST00000378842.7:c.692G>A | ENSP00000368119.3:p.Arg231His | |
| ENST00000450095.6:c.365G>A | ENSP00000401956.2:p.Arg122His | |
| ENST00000473506.6:c.*280G>A | ENSP00000432839.2:n.*280G>A | |
| ENST00000473529.5:n.851G>A | ||
| ENST00000487381.5:n.1382G>A | ||
| ENST00000489643.6:n.772G>A | ||
| ENST00000554085.5:c.*436G>A | ENSP00000450419.1:n.*436G>A | |
| ENST00000554550.5:c.*312G>A | ENSP00000451435.1:n.*312G>A | |
| ENST00000554638.5:n.1164G>A | ||
| ENST00000555020.5:n.1153G>A | ||
| ENST00000555086.5:n.696G>A | ||
| ENST00000555754.1:n.37G>A | ||
| ENST00000556244.1:c.679G>A | ||
| ENST00000556278.1:c.432+310G>A | ENSP00000451792.1:n.432+310G>A | |
| ENST00000557706.5:n.1254G>A | ||
| NM_000155.3:c.692G>A | NP_000146.2:p.Arg231His | |
| NM_001258332.1:c.365G>A | NP_001245261.1:p.Arg122His | |
| NM_000155.4:c.692G>A MANE Select | NP_000146.2:p.Arg231His | |
| NM_001258332.2:c.365G>A | NP_001245261.1:p.Arg122His |