Linked Data
dbSNP Id:
rs1057113544
gnomAD v2:
9-34648386-A-G
gnomAD v3:
9-34648389-A-G
gnomAD v4:
9-34648389-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648389A>G , CM000671.2:g.34648389A>G | GRCh38 |
| NC_000009.11:g.34648386A>G , CM000671.1:g.34648386A>G | GRCh37 |
| NC_000009.10:g.34638386A>G | NCBI36 |
| NG_009029.1:g.6752A>G | |
| NG_028966.1:g.1205A>G | |
| NG_009029.2:g.6801A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*208A>G | ENSP00000509954.1:n.*208A>G | |
| ENST00000378842.8:c.620A>G MANE Select | ENSP00000368119.4:p.Gln207Arg | |
| ENST00000378842.7:c.620A>G | ENSP00000368119.3:p.Gln207Arg | |
| ENST00000450095.6:c.293A>G | ENSP00000401956.2:p.Gln98Arg | |
| ENST00000472111.5:n.876A>G | ||
| ENST00000473506.6:c.*208A>G | ENSP00000432839.2:n.*208A>G | |
| ENST00000473529.5:n.779A>G | ||
| ENST00000487381.5:n.1005A>G | ||
| ENST00000489643.6:n.395A>G | ||
| ENST00000554085.5:c.*364A>G | ENSP00000450419.1:n.*364A>G | |
| ENST00000554550.5:c.*240A>G | ENSP00000451435.1:n.*240A>G | |
| ENST00000554638.5:n.1092A>G | ||
| ENST00000554944.5:n.969A>G | ||
| ENST00000555020.5:n.776A>G | ||
| ENST00000555086.5:n.624A>G | ||
| ENST00000555214.5:n.441A>G | ||
| ENST00000556244.1:c.607A>G | ||
| ENST00000556278.1:c.365A>G | ENSP00000451792.1:p.Gln122Arg | |
| ENST00000556494.5:n.741A>G | ||
| ENST00000557706.5:n.1182A>G | ||
| NM_000155.3:c.620A>G | NP_000146.2:p.Gln207Arg | |
| NM_001258332.1:c.293A>G | NP_001245261.1:p.Gln98Arg | |
| NM_000155.4:c.620A>G MANE Select | NP_000146.2:p.Gln207Arg | |
| NM_001258332.2:c.293A>G | NP_001245261.1:p.Gln98Arg |