Linked Data
ClinVar Variation Id:
556007
ClinVar RCV Id:
RCV000671944
dbSNP Id:
rs1554709359
gnomAD v3:
9-34648359-A-G
gnomAD v4:
9-34648359-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648359A>G , CM000671.2:g.34648359A>G | GRCh38 |
| NC_000009.11:g.34648356A>G , CM000671.1:g.34648356A>G | GRCh37 |
| NC_000009.10:g.34638356A>G | NCBI36 |
| NG_009029.1:g.6722A>G | |
| NG_028966.1:g.1175A>G | |
| NG_009029.2:g.6771A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*178A>G | ENSP00000509954.1:n.*178A>G | |
| ENST00000378842.8:c.590A>G MANE Select | ENSP00000368119.4:p.Asp197Gly | |
| ENST00000378842.7:c.590A>G | ENSP00000368119.3:p.Asp197Gly | |
| ENST00000450095.6:c.263A>G | ENSP00000401956.2:p.Asp88Gly | |
| ENST00000472111.5:n.846A>G | ||
| ENST00000473506.6:c.*178A>G | ENSP00000432839.2:n.*178A>G | |
| ENST00000473529.5:n.749A>G | ||
| ENST00000485531.1:n.1184A>G | ||
| ENST00000487381.5:n.975A>G | ||
| ENST00000489643.6:n.365A>G | ||
| ENST00000554085.5:c.*334A>G | ENSP00000450419.1:n.*334A>G | |
| ENST00000554139.5:n.836A>G | ||
| ENST00000554550.5:c.*210A>G | ENSP00000451435.1:n.*210A>G | |
| ENST00000554638.5:n.1062A>G | ||
| ENST00000554897.5:c.*277A>G | ENSP00000450942.1:n.*277A>G | |
| ENST00000554944.5:n.939A>G | ||
| ENST00000555020.5:n.746A>G | ||
| ENST00000555086.5:n.594A>G | ||
| ENST00000555214.5:n.411A>G | ||
| ENST00000556244.1:c.577A>G | ||
| ENST00000556278.1:c.335A>G | ENSP00000451792.1:p.Asp112Gly | |
| ENST00000556494.5:n.711A>G | ||
| ENST00000557706.5:n.1152A>G | ||
| NM_000155.3:c.590A>G | NP_000146.2:p.Asp197Gly | |
| NM_001258332.1:c.263A>G | NP_001245261.1:p.Asp88Gly | |
| NM_000155.4:c.590A>G MANE Select | NP_000146.2:p.Asp197Gly | |
| NM_001258332.2:c.263A>G | NP_001245261.1:p.Asp88Gly |