Linked Data
ClinVar Variation Id:
660089
ClinVar RCV Id:
RCV000817217
dbSNP Id:
rs762070650
gnomAD v4:
15-89323502-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323502C>T , CM000677.2:g.89323502C>T | GRCh38 |
| NC_000015.9:g.89866733C>T , CM000677.1:g.89866733C>T | GRCh37 |
| NC_000015.8:g.87667737C>T | NCBI36 |
| NG_008218.1:g.16294G>A | |
| NG_008218.2:g.16294G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2167G>A | ENSP00000516154.1:p.Gly723Ser | |
| ENST00000268124.11:c.2167G>A MANE Select | ENSP00000268124.5:p.Gly723Ser | |
| ENST00000530292.3:c.1768G>A | ENSP00000432885.2:p.Gly590Ser | |
| ENST00000635986.2:c.2167G>A | ENSP00000490653.2:p.Gly723Ser | |
| ENST00000636774.1:c.*734G>A | ENSP00000489799.1:n.*734G>A | |
| ENST00000637238.1:c.864G>A | ENSP00000490756.1:n.864G>A | |
| ENST00000637264.1:c.1239G>A | ||
| ENST00000666746.1:c.1744G>A | ||
| ENST00000670281.1:c.487G>A | ENSP00000499709.1:p.Gly163Ser | |
| ENST00000672071.1:n.2365G>A | ||
| ENST00000672923.2:n.2270G>A | ||
| ENST00000268124.9:c.2167G>A | ENSP00000268124.5:p.Gly723Ser | |
| ENST00000442287.6:c.2167G>A | ENSP00000399851.2:p.Gly723Ser | |
| ENST00000526314.2:c.539+313G>A | ||
| ENST00000526398.1:c.316G>A | ||
| ENST00000532584.5:n.369G>A | ||
| ENST00000631044.2:c.*1591G>A | ENSP00000486730.1:n.*1591G>A | |
| NM_001126131.1:c.2167G>A | NP_001119603.1:p.Gly723Ser | |
| NM_002693.2:c.2167G>A | NP_002684.1:p.Gly723Ser | |
| NM_001126131.2:c.2167G>A | NP_001119603.1:p.Gly723Ser | |
| NM_002693.3:c.2167G>A MANE Select | NP_002684.1:p.Gly723Ser |