Linked Data
ClinVar Variation Id:
242159
dbSNP Id:
rs139519641
ExAC:
16:84208329 G / A
gnomAD v2:
16-84208329-G-A
gnomAD v3:
16-84174723-G-A
gnomAD v4:
16-84174723-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84174723G>A , CM000678.2:g.84174723G>A | GRCh38 |
| NC_000016.9:g.84208329G>A , CM000678.1:g.84208329G>A | GRCh37 |
| NC_000016.8:g.82765830G>A | NCBI36 |
| NG_021174.1:g.34465G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378553.10:c.1698+1G>A MANE Select | ENSP00000367815.5:n.1698+1G>A | |
| ENST00000378553.9:c.1698+1G>A | ENSP00000367815.5:n.1698+1G>A | |
| ENST00000563093.5:c.*254G>A | ENSP00000457373.1:n.*254G>A | |
| ENST00000563818.5:n.1375+1G>A | ||
| ENST00000570298.5:n.4146G>A | ||
| NM_178452.4:c.1698+1G>A | NP_848547.4:n.1698+1G>A | |
| XM_006721129.1:c.1699G>A | XP_006721192.1:p.Val567Ile | |
| XM_011522850.1:c.1747G>A | XP_011521152.1:p.Val583Ile | |
| XM_011522851.1:c.1746+1G>A | XP_011521153.1:n.1746+1G>A | |
| XM_011522852.1:c.1699G>A | XP_011521154.1:p.Val567Ile | |
| XM_011522853.1:c.1746+1G>A | XP_011521155.1:n.1746+1G>A | |
| XM_011522854.1:c.1747G>A | XP_011521156.1:p.Val583Ile | |
| XM_011522855.1:c.1746+1G>A | XP_011521157.1:n.1746+1G>A | |
| XM_011522856.1:c.1486G>A | XP_011521158.1:p.Val496Ile | |
| XM_011522857.1:c.1747G>A | XP_011521159.1:p.Val583Ile | |
| XM_011522858.1:c.1746+1G>A | XP_011521160.1:n.1746+1G>A | |
| XM_011522859.1:c.991G>A | XP_011521161.1:p.Val331Ile | |
| XM_011522860.1:c.990+1G>A | XP_011521162.1:n.990+1G>A | |
| NM_001318756.1:c.990+1G>A | NP_001305685.1:n.990+1G>A | |
| NM_178452.5:c.1698+1G>A | NP_848547.4:n.1698+1G>A | |
| XM_006721129.3:c.1699G>A | XP_006721192.1:p.Val567Ile | |
| XM_011522853.3:c.1746+1G>A | XP_011521155.1:n.1746+1G>A | |
| XM_011522854.3:c.1747G>A | XP_011521156.1:p.Val583Ile | |
| XM_011522855.3:c.1746+1G>A | XP_011521157.1:n.1746+1G>A | |
| XM_011522857.3:c.1747G>A | XP_011521159.1:p.Val583Ile | |
| XM_011522858.3:c.1746+1G>A | XP_011521160.1:n.1746+1G>A | |
| XM_017022918.2:c.1698+1G>A | XP_016878407.1:n.1698+1G>A | |
| XM_017022919.1:c.1485+1G>A | XP_016878408.1:n.1485+1G>A | |
| XM_017022920.2:c.990+1G>A | XP_016878409.1:n.990+1G>A | |
| XM_017022921.2:c.942+1G>A | XP_016878410.1:n.942+1G>A | |
| XM_017022922.2:c.942+1G>A | XP_016878411.1:n.942+1G>A | |
| XR_001751829.2:n.1921G>A | ||
| XR_001751830.2:n.1920+1G>A | ||
| XR_001751831.2:n.1872+1G>A | ||
| XR_001751832.1:n.4474+1G>A | ||
| NM_178452.6:c.1698+1G>A MANE Select | NP_848547.4:n.1698+1G>A |