Linked Data
ClinVar Variation Id:
286678
dbSNP Id:
rs148387367
ExAC:
16:84205904 G / A
gnomAD v2:
16-84205904-G-A
gnomAD v3:
16-84172298-G-A
gnomAD v4:
16-84172298-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84172298G>A , CM000678.2:g.84172298G>A | GRCh38 |
| NC_000016.9:g.84205904G>A , CM000678.1:g.84205904G>A | GRCh37 |
| NC_000016.8:g.82763405G>A | NCBI36 |
| NG_021174.1:g.32040G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378553.10:c.1567G>A MANE Select | ENSP00000367815.5:p.Val523Ile | |
| ENST00000378553.9:c.1567G>A | ENSP00000367815.5:p.Val523Ile | |
| ENST00000563093.5:c.*122G>A | ENSP00000457373.1:n.*122G>A | |
| ENST00000563818.5:n.1244G>A | ||
| ENST00000570298.5:n.1721G>A | ||
| NM_178452.4:c.1567G>A | NP_848547.4:p.Val523Ile | |
| XM_006721129.1:c.1567G>A | XP_006721192.1:p.Val523Ile | |
| XM_011522850.1:c.1615G>A | XP_011521152.1:p.Val539Ile | |
| XM_011522851.1:c.1615G>A | XP_011521153.1:p.Val539Ile | |
| XM_011522852.1:c.1567G>A | XP_011521154.1:p.Val523Ile | |
| XM_011522853.1:c.1615G>A | XP_011521155.1:p.Val539Ile | |
| XM_011522854.1:c.1615G>A | XP_011521156.1:p.Val539Ile | |
| XM_011522855.1:c.1615G>A | XP_011521157.1:p.Val539Ile | |
| XM_011522856.1:c.1354G>A | XP_011521158.1:p.Val452Ile | |
| XM_011522857.1:c.1615G>A | XP_011521159.1:p.Val539Ile | |
| XM_011522858.1:c.1615G>A | XP_011521160.1:p.Val539Ile | |
| XM_011522859.1:c.859G>A | XP_011521161.1:p.Val287Ile | |
| XM_011522860.1:c.859G>A | XP_011521162.1:p.Val287Ile | |
| NM_001318756.1:c.859G>A | NP_001305685.1:p.Val287Ile | |
| NM_178452.5:c.1567G>A | NP_848547.4:p.Val523Ile | |
| XM_006721129.3:c.1567G>A | XP_006721192.1:p.Val523Ile | |
| XM_011522853.3:c.1615G>A | XP_011521155.1:p.Val539Ile | |
| XM_011522854.3:c.1615G>A | XP_011521156.1:p.Val539Ile | |
| XM_011522855.3:c.1615G>A | XP_011521157.1:p.Val539Ile | |
| XM_011522857.3:c.1615G>A | XP_011521159.1:p.Val539Ile | |
| XM_011522858.3:c.1615G>A | XP_011521160.1:p.Val539Ile | |
| XM_017022918.2:c.1567G>A | XP_016878407.1:p.Val523Ile | |
| XM_017022919.1:c.1354G>A | XP_016878408.1:p.Val452Ile | |
| XM_017022920.2:c.859G>A | XP_016878409.1:p.Val287Ile | |
| XM_017022921.2:c.811G>A | XP_016878410.1:p.Val271Ile | |
| XM_017022922.2:c.811G>A | XP_016878411.1:p.Val271Ile | |
| XR_001751829.2:n.1789G>A | ||
| XR_001751830.2:n.1789G>A | ||
| XR_001751831.2:n.1741G>A | ||
| XR_001751832.1:n.2050G>A | ||
| NM_178452.6:c.1567G>A MANE Select | NP_848547.4:p.Val523Ile |