Linked Data
ClinVar Variation Id:
730223
ClinVar RCV Id:
RCV000904999
dbSNP Id:
rs1422155989
gnomAD v4:
10-102397320-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102397320C>A , CM000672.2:g.102397320C>A | GRCh38 |
| NC_000010.10:g.104157077C>A , CM000672.1:g.104157077C>A | GRCh37 |
| NC_000010.9:g.104147067C>A | NCBI36 |
| NG_033874.1:g.8211C>A | |
| NG_033874.2:g.8211C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697882.1:n.409C>A | ||
| ENST00000189444.11:c.414C>A | ENSP00000189444.6:p.Val138= | |
| ENST00000369966.8:c.414C>A | ENSP00000358983.3:p.Val138= | |
| ENST00000428099.6:c.414C>A | ENSP00000410256.1:p.Val138= | |
| ENST00000652277.1:c.414C>A | ENSP00000498308.1:p.Val138= | |
| ENST00000661543.1:c.414C>A MANE Select | ENSP00000499294.1:p.Val138= | |
| ENST00000189444.10:c.414C>A | ENSP00000189444.6:p.Val138= | |
| ENST00000369966.7:c.414C>A | ENSP00000358983.3:p.Val138= | |
| ENST00000428099.5:c.414C>A | ENSP00000410256.1:p.Val138= | |
| ENST00000467116.5:n.577C>A | ||
| ENST00000610498.1:c.414C>A | ENSP00000480211.1:p.Val138= | |
| NM_001077494.3:c.414C>A | NP_001070962.1:p.Val138= | |
| NM_001261403.2:c.414C>A | NP_001248332.1:p.Val138= | |
| NM_001288724.1:c.414C>A | NP_001275653.1:p.Val138= | |
| NM_002502.5:c.414C>A | NP_002493.3:p.Val138= | |
| XM_005269860.1:c.414C>A | XP_005269917.1:p.Val138= | |
| XM_005269861.3:c.414C>A | XP_005269918.1:p.Val138= | |
| XM_011539830.1:c.-22C>A | XP_011538132.1:n.-22C>A | |
| XM_011539831.1:c.-22C>A | XP_011538133.1:n.-22C>A | |
| NM_001322934.1:c.414C>A | NP_001309863.1:p.Val138= | |
| NM_001322935.1:c.414C>A | NP_001309864.1:p.Val138= | |
| XM_011539830.3:c.-22C>A | XP_011538132.1:n.-22C>A | |
| XM_011539831.2:c.-22C>A | XP_011538133.1:n.-22C>A | |
| XM_017016278.1:c.957C>A | XP_016871767.1:p.Val319= | |
| XM_024448026.1:c.288C>A | XP_024303794.1:p.Val96= | |
| XM_024448027.1:c.-867C>A | XP_024303795.1:n.-867C>A | |
| NM_001261403.3:c.414C>A | NP_001248332.1:p.Val138= | |
| NM_001322934.2:c.414C>A MANE Select | NP_001309863.1:p.Val138= | |
| NM_002502.6:c.414C>A | NP_002493.3:p.Val138= |