Linked Data
ClinVar Variation Id:
474786
ClinVar RCV Id:
RCV000525183
dbSNP Id:
rs45581936
ExAC:
10:104156028 G / A
gnomAD v2:
10-104156028-G-A
gnomAD v3:
10-102396271-G-A
gnomAD v4:
10-102396271-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102396271G>A , CM000672.2:g.102396271G>A | GRCh38 |
| NC_000010.10:g.104156028G>A , CM000672.1:g.104156028G>A | GRCh37 |
| NC_000010.9:g.104146018G>A | NCBI36 |
| NG_033874.1:g.7162G>A | |
| NG_033874.2:g.7162G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697881.1:n.310G>A | ||
| ENST00000697882.1:n.35G>A | ||
| ENST00000189444.11:c.40G>A | ENSP00000189444.6:p.Glu14Lys | |
| ENST00000369966.8:c.40G>A | ENSP00000358983.3:p.Glu14Lys | |
| ENST00000428099.6:c.40G>A | ENSP00000410256.1:p.Glu14Lys | |
| ENST00000471698.6:n.293G>A | ||
| ENST00000652277.1:c.40G>A | ENSP00000498308.1:p.Glu14Lys | |
| ENST00000661543.1:c.40G>A MANE Select | ENSP00000499294.1:p.Glu14Lys | |
| ENST00000189444.10:c.40G>A | ENSP00000189444.6:p.Glu14Lys | |
| ENST00000369966.7:c.40G>A | ENSP00000358983.3:p.Glu14Lys | |
| ENST00000428099.5:c.40G>A | ENSP00000410256.1:p.Glu14Lys | |
| ENST00000467116.5:n.203G>A | ||
| ENST00000471698.5:c.40G>A | ENSP00000471586.1:p.Glu14Lys | |
| ENST00000601386.5:c.40G>A | ENSP00000470826.1:p.Glu14Lys | |
| ENST00000610498.1:c.40G>A | ENSP00000480211.1:p.Glu14Lys | |
| NM_001077494.3:c.40G>A | NP_001070962.1:p.Glu14Lys | |
| NM_001261403.2:c.40G>A | NP_001248332.1:p.Glu14Lys | |
| NM_001288724.1:c.40G>A | NP_001275653.1:p.Glu14Lys | |
| NM_002502.5:c.40G>A | NP_002493.3:p.Glu14Lys | |
| XM_005269860.1:c.40G>A | XP_005269917.1:p.Glu14Lys | |
| XM_005269861.3:c.40G>A | XP_005269918.1:p.Glu14Lys | |
| NM_001322934.1:c.40G>A | NP_001309863.1:p.Glu14Lys | |
| NM_001322935.1:c.40G>A | NP_001309864.1:p.Glu14Lys | |
| XM_017016278.1:c.583G>A | XP_016871767.1:p.Glu195Lys | |
| XM_024448026.1:c.-322G>A | XP_024303794.1:n.-322G>A | |
| XM_024448027.1:c.-1241G>A | XP_024303795.1:n.-1241G>A | |
| NM_001261403.3:c.40G>A | NP_001248332.1:p.Glu14Lys | |
| NM_001322934.2:c.40G>A MANE Select | NP_001309863.1:p.Glu14Lys | |
| NM_002502.6:c.40G>A | NP_002493.3:p.Glu14Lys |