Linked Data
ClinVar Variation Id:
1122955
ClinVar RCV Id:
RCV001453805
dbSNP Id:
rs756379314
ExAC:
9:34648411 G / A
gnomAD v2:
9-34648411-G-A
gnomAD v4:
9-34648414-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648414G>A , CM000671.2:g.34648414G>A | GRCh38 |
| NC_000009.11:g.34648411G>A , CM000671.1:g.34648411G>A | GRCh37 |
| NC_000009.10:g.34638411G>A | NCBI36 |
| NG_009029.1:g.6777G>A | |
| NG_028966.1:g.1230G>A | |
| NG_009029.2:g.6826G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*233G>A | ENSP00000509954.1:n.*233G>A | |
| ENST00000378842.8:c.645G>A MANE Select | ENSP00000368119.4:p.Glu215= | |
| ENST00000378842.7:c.645G>A | ENSP00000368119.3:p.Glu215= | |
| ENST00000450095.6:c.318G>A | ENSP00000401956.2:p.Glu106= | |
| ENST00000472111.5:n.901G>A | ||
| ENST00000473506.6:c.*233G>A | ENSP00000432839.2:n.*233G>A | |
| ENST00000473529.5:n.804G>A | ||
| ENST00000487381.5:n.1030G>A | ||
| ENST00000489643.6:n.420G>A | ||
| ENST00000554085.5:c.*389G>A | ENSP00000450419.1:n.*389G>A | |
| ENST00000554550.5:c.*265G>A | ENSP00000451435.1:n.*265G>A | |
| ENST00000554638.5:n.1117G>A | ||
| ENST00000555020.5:n.801G>A | ||
| ENST00000555086.5:n.649G>A | ||
| ENST00000555214.5:n.466G>A | ||
| ENST00000556244.1:c.632G>A | ||
| ENST00000556278.1:c.390G>A | ENSP00000451792.1:p.Glu130= | |
| ENST00000556494.5:n.766G>A | ||
| ENST00000557706.5:n.1207G>A | ||
| NM_000155.3:c.645G>A | NP_000146.2:p.Glu215= | |
| NM_001258332.1:c.318G>A | NP_001245261.1:p.Glu106= | |
| NM_000155.4:c.645G>A MANE Select | NP_000146.2:p.Glu215= | |
| NM_001258332.2:c.318G>A | NP_001245261.1:p.Glu106= |