Linked Data
ClinVar Variation Id:
193422
dbSNP Id:
rs199891552
ExAC:
16:5121869 G / A
gnomAD v2:
16-5121869-G-A
gnomAD v3:
16-5071868-G-A
gnomAD v4:
16-5071868-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5071868G>A , CM000678.2:g.5071868G>A | GRCh38 |
| NC_000016.9:g.5121869G>A , CM000678.1:g.5121869G>A | GRCh37 |
| NC_000016.8:g.5061870G>A | NCBI36 |
| NG_009202.1:g.5060G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.26G>A | ||
| ENST00000682020.1:c.-55-5577G>A | ENSP00000508075.1:n.-55-5577G>A | |
| ENST00000682206.1:c.19G>A | ENSP00000508285.1:p.Val7Ile | |
| ENST00000682314.1:n.63G>A | ||
| ENST00000682327.1:c.-99-3520G>A | ENSP00000507058.1:n.-99-3520G>A | |
| ENST00000682349.1:n.26G>A | ||
| ENST00000682703.1:n.26G>A | ||
| ENST00000682797.1:c.19G>A | ENSP00000507582.1:p.Val7Ile | |
| ENST00000682985.1:c.-99-3520G>A | ENSP00000507598.1:n.-99-3520G>A | |
| ENST00000683433.1:c.-55-5577G>A | ENSP00000507463.1:n.-55-5577G>A | |
| ENST00000683685.1:n.63G>A | ||
| ENST00000683710.1:c.19G>A | ENSP00000506785.1:p.Val7Ile | |
| ENST00000683772.1:n.63G>A | ||
| ENST00000684008.1:c.19G>A | ENSP00000507962.1:p.Val7Ile | |
| ENST00000684190.1:c.19G>A | ENSP00000507554.1:p.Val7Ile | |
| ENST00000684335.1:c.19G>A | ENSP00000508112.1:p.Val7Ile | |
| ENST00000262374.10:c.19G>A MANE Select | ENSP00000262374.5:p.Val7Ile | |
| ENST00000650085.1:n.1013-1083G>A | ||
| ENST00000262374.9:c.19G>A | ENSP00000262374.4:p.Val7Ile | |
| ENST00000586840.1:c.19G>A | ENSP00000467538.1:p.Val7Ile | |
| ENST00000588623.5:c.-125-1083G>A | ENSP00000468118.1:n.-125-1083G>A | |
| ENST00000591822.5:c.19G>A | ENSP00000467865.1:p.Val7Ile | |
| ENST00000592793.5:n.26G>A | ||
| NM_019109.4:c.19G>A | NP_061982.3:p.Val7Ile | |
| XR_932882.1:n.60G>A | ||
| XM_017023457.2:c.19G>A | XP_016878946.1:p.Val7Ile | |
| XM_017023458.1:c.-471G>A | XP_016878947.1:n.-471G>A | |
| XR_932882.3:n.44G>A | ||
| NM_019109.5:c.19G>A MANE Select | NP_061982.3:p.Val7Ile |