Linked Data
ClinVar Variation Id:
1549453
dbSNP Id:
rs2055502648
MyVariant Identifiers:
chr15:g.89868704T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89325473T>A , CM000677.2:g.89325473T>A | GRCh38 |
| NC_000015.9:g.89868704T>A , CM000677.1:g.89868704T>A | GRCh37 |
| NC_000015.8:g.87669708T>A | NCBI36 |
| NG_008218.1:g.14323A>T | |
| NG_008218.2:g.14323A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1926A>T | ENSP00000516154.1:p.Ser642= | |
| ENST00000268124.11:c.1926A>T MANE Select | ENSP00000268124.5:p.Ser642= | |
| ENST00000530292.3:c.1527A>T | ENSP00000432885.2:p.Ser509= | |
| ENST00000635986.2:c.1926A>T | ENSP00000490653.2:p.Ser642= | |
| ENST00000636774.1:c.*493A>T | ENSP00000489799.1:n.*493A>T | |
| ENST00000637238.1:c.646+17A>T | ENSP00000490756.1:n.646+17A>T | |
| ENST00000637264.1:c.998A>T | ||
| ENST00000666746.1:c.1503A>T | ||
| ENST00000670281.1:c.246A>T | ENSP00000499709.1:p.Ser82= | |
| ENST00000672071.1:n.2124A>T | ||
| ENST00000672923.2:n.2029A>T | ||
| ENST00000268124.9:c.1926A>T | ENSP00000268124.5:p.Ser642= | |
| ENST00000442287.6:c.1926A>T | ENSP00000399851.2:p.Ser642= | |
| ENST00000526314.2:c.308A>T | ||
| ENST00000526398.1:c.115A>T | ||
| ENST00000526573.1:n.12A>T | ||
| ENST00000532584.5:n.128A>T | ||
| ENST00000631044.2:c.*1309A>T | ENSP00000486730.1:n.*1309A>T | |
| NM_001126131.1:c.1926A>T | NP_001119603.1:p.Ser642= | |
| NM_002693.2:c.1926A>T | NP_002684.1:p.Ser642= | |
| NM_001126131.2:c.1926A>T | NP_001119603.1:p.Ser642= | |
| NM_002693.3:c.1926A>T MANE Select | NP_002684.1:p.Ser642= |