Linked Data
ClinVar Variation Id:
1157183
ClinVar RCV Id:
RCV001500136
dbSNP Id:
rs770451714
ExAC:
9:34648375 G / A
gnomAD v2:
9-34648375-G-A
gnomAD v4:
9-34648378-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648378G>A , CM000671.2:g.34648378G>A | GRCh38 |
| NC_000009.11:g.34648375G>A , CM000671.1:g.34648375G>A | GRCh37 |
| NC_000009.10:g.34638375G>A | NCBI36 |
| NG_009029.1:g.6741G>A | |
| NG_028966.1:g.1194G>A | |
| NG_009029.2:g.6790G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*197G>A | ENSP00000509954.1:n.*197G>A | |
| ENST00000378842.8:c.609G>A MANE Select | ENSP00000368119.4:p.Glu203= | |
| ENST00000378842.7:c.609G>A | ENSP00000368119.3:p.Glu203= | |
| ENST00000450095.6:c.282G>A | ENSP00000401956.2:p.Glu94= | |
| ENST00000472111.5:n.865G>A | ||
| ENST00000473506.6:c.*197G>A | ENSP00000432839.2:n.*197G>A | |
| ENST00000473529.5:n.768G>A | ||
| ENST00000487381.5:n.994G>A | ||
| ENST00000489643.6:n.384G>A | ||
| ENST00000554085.5:c.*353G>A | ENSP00000450419.1:n.*353G>A | |
| ENST00000554139.5:n.855G>A | ||
| ENST00000554550.5:c.*229G>A | ENSP00000451435.1:n.*229G>A | |
| ENST00000554638.5:n.1081G>A | ||
| ENST00000554944.5:n.958G>A | ||
| ENST00000555020.5:n.765G>A | ||
| ENST00000555086.5:n.613G>A | ||
| ENST00000555214.5:n.430G>A | ||
| ENST00000556244.1:c.596G>A | ||
| ENST00000556278.1:c.354G>A | ENSP00000451792.1:p.Glu118= | |
| ENST00000556494.5:n.730G>A | ||
| ENST00000557706.5:n.1171G>A | ||
| NM_000155.3:c.609G>A | NP_000146.2:p.Glu203= | |
| NM_001258332.1:c.282G>A | NP_001245261.1:p.Glu94= | |
| NM_000155.4:c.609G>A MANE Select | NP_000146.2:p.Glu203= | |
| NM_001258332.2:c.282G>A | NP_001245261.1:p.Glu94= |