Linked Data
ClinVar Variation Id:
2887757
ClinVar RCV Id:
RCV003627125
MyVariant Identifiers:
chr15:g.89866707G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323476G>A , CM000677.2:g.89323476G>A | GRCh38 |
| NC_000015.9:g.89866707G>A , CM000677.1:g.89866707G>A | GRCh37 |
| NC_000015.8:g.87667711G>A | NCBI36 |
| NG_008218.1:g.16320C>T | |
| NG_008218.2:g.16320C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2193C>T | ENSP00000516154.1:p.Ser731= | |
| ENST00000268124.11:c.2193C>T MANE Select | ENSP00000268124.5:p.Ser731= | |
| ENST00000530292.3:c.1794C>T | ENSP00000432885.2:p.Ser598= | |
| ENST00000635986.2:c.2193C>T | ENSP00000490653.2:p.Ser731= | |
| ENST00000636774.1:c.*760C>T | ENSP00000489799.1:n.*760C>T | |
| ENST00000637238.1:c.890C>T | ENSP00000490756.1:n.890C>T | |
| ENST00000637264.1:c.1265C>T | ||
| ENST00000666746.1:c.1770C>T | ||
| ENST00000670281.1:c.513C>T | ENSP00000499709.1:p.Ser171= | |
| ENST00000672071.1:n.2391C>T | ||
| ENST00000672923.2:n.2296C>T | ||
| ENST00000268124.9:c.2193C>T | ENSP00000268124.5:p.Ser731= | |
| ENST00000442287.6:c.2193C>T | ENSP00000399851.2:p.Ser731= | |
| ENST00000526314.2:c.539+339C>T | ||
| ENST00000526398.1:c.342C>T | ||
| ENST00000532584.5:n.395C>T | ||
| ENST00000631044.2:c.*1617C>T | ENSP00000486730.1:n.*1617C>T | |
| NM_001126131.1:c.2193C>T | NP_001119603.1:p.Ser731= | |
| NM_002693.2:c.2193C>T | NP_002684.1:p.Ser731= | |
| NM_001126131.2:c.2193C>T | NP_001119603.1:p.Ser731= | |
| NM_002693.3:c.2193C>T MANE Select | NP_002684.1:p.Ser731= |