Linked Data
ClinVar Variation Id:
495679
dbSNP Id:
rs777577533
ExAC:
9:34648444 A / G
gnomAD v2:
9-34648444-A-G
gnomAD v4:
9-34648447-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648447A>G , CM000671.2:g.34648447A>G | GRCh38 |
| NC_000009.11:g.34648444A>G , CM000671.1:g.34648444A>G | GRCh37 |
| NC_000009.10:g.34638444A>G | NCBI36 |
| NG_009029.1:g.6810A>G | |
| NG_028966.1:g.1263A>G | |
| NG_009029.2:g.6859A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*266A>G | ENSP00000509954.1:n.*266A>G | |
| ENST00000378842.8:c.678A>G MANE Select | ENSP00000368119.4:p.Leu226= | |
| ENST00000378842.7:c.678A>G | ENSP00000368119.3:p.Leu226= | |
| ENST00000450095.6:c.351A>G | ENSP00000401956.2:p.Leu117= | |
| ENST00000472111.5:n.934A>G | ||
| ENST00000473506.6:c.*266A>G | ENSP00000432839.2:n.*266A>G | |
| ENST00000473529.5:n.837A>G | ||
| ENST00000487381.5:n.1063A>G | ||
| ENST00000489643.6:n.453A>G | ||
| ENST00000554085.5:c.*422A>G | ENSP00000450419.1:n.*422A>G | |
| ENST00000554550.5:c.*298A>G | ENSP00000451435.1:n.*298A>G | |
| ENST00000554638.5:n.1150A>G | ||
| ENST00000555020.5:n.834A>G | ||
| ENST00000555086.5:n.682A>G | ||
| ENST00000555214.5:n.499A>G | ||
| ENST00000555754.1:n.23A>G | ||
| ENST00000556244.1:c.665A>G | ||
| ENST00000556278.1:c.423A>G | ENSP00000451792.1:p.Leu141= | |
| ENST00000556494.5:n.799A>G | ||
| ENST00000557706.5:n.1240A>G | ||
| NM_000155.3:c.678A>G | NP_000146.2:p.Leu226= | |
| NM_001258332.1:c.351A>G | NP_001245261.1:p.Leu117= | |
| NM_000155.4:c.678A>G MANE Select | NP_000146.2:p.Leu226= | |
| NM_001258332.2:c.351A>G | NP_001245261.1:p.Leu117= |