Linked Data
ClinVar Variation Id:
38277
dbSNP Id:
rs111033831
ExAC:
9:34648886 G / A
gnomAD v2:
9-34648886-G-A
gnomAD v4:
9-34648889-G-A
COSMIC:
COSM4686365
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648889G>A , CM000671.2:g.34648889G>A | GRCh38 |
| NC_000009.11:g.34648886G>A , CM000671.1:g.34648886G>A | GRCh37 |
| NC_000009.10:g.34638886G>A | NCBI36 |
| NG_009029.1:g.7252G>A | |
| NG_028966.1:g.1705G>A | |
| NG_009029.2:g.7301G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*403G>A | ENSP00000509954.1:n.*403G>A | |
| ENST00000378842.8:c.815G>A MANE Select | ENSP00000368119.4:p.Arg272His | |
| ENST00000378842.7:c.815G>A | ENSP00000368119.3:p.Arg272His | |
| ENST00000450095.6:c.488G>A | ENSP00000401956.2:p.Arg163His | |
| ENST00000473506.6:c.*403G>A | ENSP00000432839.2:n.*403G>A | |
| ENST00000489643.6:n.895G>A | ||
| ENST00000554085.5:c.*559G>A | ENSP00000450419.1:n.*559G>A | |
| ENST00000554550.5:c.*435G>A | ENSP00000451435.1:n.*435G>A | |
| ENST00000554638.5:n.1287G>A | ||
| ENST00000555020.5:n.1276G>A | ||
| ENST00000555086.5:n.819G>A | ||
| ENST00000555754.1:n.160G>A | ||
| ENST00000556244.1:c.802G>A | ||
| ENST00000556278.1:c.432+433G>A | ENSP00000451792.1:n.432+433G>A | |
| ENST00000557706.5:n.1377G>A | ||
| NM_000155.3:c.815G>A | NP_000146.2:p.Arg272His | |
| NM_001258332.1:c.488G>A | NP_001245261.1:p.Arg163His | |
| NM_000155.4:c.815G>A MANE Select | NP_000146.2:p.Arg272His | |
| NM_001258332.2:c.488G>A | NP_001245261.1:p.Arg163His |