Linked Data
ClinVar Variation Id:
317808
dbSNP Id:
rs199772721
ExAC:
16:14026155 G / T
gnomAD v2:
16-14026155-G-T
gnomAD v3:
16-13932298-G-T
gnomAD v4:
16-13932298-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13932298G>T , CM000678.2:g.13932298G>T | GRCh38 |
| NC_000016.9:g.14026155G>T , CM000678.1:g.14026155G>T | GRCh37 |
| NC_000016.8:g.13933656G>T | NCBI36 |
| NG_011442.1:g.17142G>T , LRG_463:g.17142G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682552.1:n.1090+13G>T | ||
| ENST00000682568.1:n.1180+13G>T | ||
| ENST00000682617.1:c.1240+13G>T | ENSP00000507912.1:n.1240+13G>T | |
| ENST00000682826.1:c.*416+13G>T | ENSP00000507274.1:n.*416+13G>T | |
| ENST00000682909.1:n.3142+13G>T | ||
| ENST00000683277.1:n.2747+13G>T | ||
| ENST00000683407.1:n.1110+13G>T | ||
| ENST00000683962.1:c.*796+13G>T | ENSP00000506854.1:n.*796+13G>T | |
| ENST00000311895.8:c.1102+13G>T MANE Select | ENSP00000310520.7:n.1102+13G>T | |
| ENST00000311895.7:c.1102+13G>T | ENSP00000310520.7:n.1102+13G>T | |
| ENST00000389138.7:n.273G>T | ||
| ENST00000575156.5:c.1115G>T | ENSP00000459933.1:p.Gly372Val | |
| NM_005236.2:c.1102+13G>T , LRG_463t1:c.1102+13G>T | NP_005227.1:n.1102+13G>T | |
| XM_011522424.1:c.1240+13G>T | XP_011520726.1:n.1240+13G>T | |
| XM_011522425.1:c.559+13G>T | XP_011520727.1:n.559+13G>T | |
| XM_011522426.1:c.313+13G>T | XP_011520728.1:n.313+13G>T | |
| XM_011522427.1:c.-355G>T | XP_011520729.1:n.-355G>T | |
| XR_932805.1:n.1261+13G>T | ||
| XM_011522424.3:c.1240+13G>T | XP_011520726.1:n.1240+13G>T | |
| XM_017023043.2:c.313+13G>T | XP_016878532.1:n.313+13G>T | |
| NM_005236.3:c.1102+13G>T MANE Select | NP_005227.1:n.1102+13G>T |