Linked Data
ClinVar Variation Id:
138769
dbSNP Id:
rs143631183
ExAC:
15:89873369 C / A
gnomAD v2:
15-89873369-C-A
gnomAD v3:
15-89330138-C-A
gnomAD v4:
15-89330138-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89330138C>A , CM000677.2:g.89330138C>A | GRCh38 |
| NC_000015.9:g.89873369C>A , CM000677.1:g.89873369C>A | GRCh37 |
| NC_000015.8:g.87674373C>A | NCBI36 |
| NG_008218.1:g.9658G>T | |
| NG_008218.2:g.9658G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.798G>T | ENSP00000516154.1:p.Val266= | |
| ENST00000268124.11:c.798G>T MANE Select | ENSP00000268124.5:p.Val266= | |
| ENST00000530292.3:c.399G>T | ENSP00000432885.2:p.Val133= | |
| ENST00000635986.2:c.798G>T | ENSP00000490653.2:p.Val266= | |
| ENST00000636774.1:c.798G>T | ENSP00000489799.1:p.Val266= | |
| ENST00000666746.1:c.455G>T | ||
| ENST00000672071.1:n.996G>T | ||
| ENST00000268124.9:c.798G>T | ENSP00000268124.5:p.Val266= | |
| ENST00000442287.6:c.798G>T | ENSP00000399851.2:p.Val266= | |
| ENST00000631044.2:c.*181G>T | ENSP00000486730.1:n.*181G>T | |
| NM_001126131.1:c.798G>T | NP_001119603.1:p.Val266= | |
| NM_002693.2:c.798G>T | NP_002684.1:p.Val266= | |
| NM_001126131.2:c.798G>T | NP_001119603.1:p.Val266= | |
| NM_002693.3:c.798G>T MANE Select | NP_002684.1:p.Val266= |