Linked Data
ClinVar Variation Id:
25178
dbSNP Id:
rs111033694
ExAC:
9:34647894 G / A
gnomAD v2:
9-34647894-G-A
gnomAD v3:
9-34647897-G-A
gnomAD v4:
9-34647897-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647897G>A , CM000671.2:g.34647897G>A | GRCh38 |
| NC_000009.11:g.34647894G>A , CM000671.1:g.34647894G>A | GRCh37 |
| NC_000009.10:g.34637894G>A | NCBI36 |
| NG_009029.1:g.6260G>A | |
| NG_028966.1:g.713G>A | |
| NG_009029.2:g.6309G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*31G>A | ENSP00000509954.1:n.*31G>A | |
| ENST00000378842.8:c.443G>A MANE Select | ENSP00000368119.4:p.Arg148Gln | |
| ENST00000378842.7:c.443G>A | ENSP00000368119.3:p.Arg148Gln | |
| ENST00000450095.6:c.116G>A | ENSP00000401956.2:p.Arg39Gln | |
| ENST00000465543.6:n.782G>A | ||
| ENST00000472111.5:n.699G>A | ||
| ENST00000473506.6:c.*31G>A | ENSP00000432839.2:n.*31G>A | |
| ENST00000473529.5:n.579G>A | ||
| ENST00000485531.1:n.884G>A | ||
| ENST00000487381.5:n.828G>A | ||
| ENST00000489643.6:n.283-218G>A | ||
| ENST00000554085.5:c.*187G>A | ENSP00000450419.1:n.*187G>A | |
| ENST00000554139.5:n.622G>A | ||
| ENST00000554550.5:c.*63G>A | ENSP00000451435.1:n.*63G>A | |
| ENST00000554638.5:n.915G>A | ||
| ENST00000554897.5:c.*63G>A | ENSP00000450942.1:n.*63G>A | |
| ENST00000554944.5:n.639G>A | ||
| ENST00000555020.5:n.599G>A | ||
| ENST00000555086.5:n.447G>A | ||
| ENST00000555214.5:n.262-151G>A | ||
| ENST00000556244.1:c.430G>A | ||
| ENST00000556278.1:c.253-218G>A | ENSP00000451792.1:n.253-218G>A | |
| ENST00000556494.5:n.564G>A | ||
| ENST00000557541.5:n.587G>A | ||
| ENST00000557706.5:n.1005G>A | ||
| NM_000155.3:c.443G>A | NP_000146.2:p.Arg148Gln | |
| NM_001258332.1:c.116G>A | NP_001245261.1:p.Arg39Gln | |
| NM_000155.4:c.443G>A MANE Select | NP_000146.2:p.Arg148Gln | |
| NM_001258332.2:c.116G>A | NP_001245261.1:p.Arg39Gln |