Linked Data
ClinVar Variation Id:
1557100
ClinVar RCV Id:
RCV002194714
dbSNP Id:
rs1199472537
gnomAD v2:
15-89868851-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89325620G>A , CM000677.2:g.89325620G>A | GRCh38 |
| NC_000015.9:g.89868851G>A , CM000677.1:g.89868851G>A | GRCh37 |
| NC_000015.8:g.87669855G>A | NCBI36 |
| NG_008218.1:g.14176C>T | |
| NG_008218.2:g.14176C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1779C>T | ENSP00000516154.1:p.Ser593= | |
| ENST00000268124.11:c.1779C>T MANE Select | ENSP00000268124.5:p.Ser593= | |
| ENST00000530292.3:c.1380C>T | ENSP00000432885.2:p.Ser460= | |
| ENST00000635986.2:c.1779C>T | ENSP00000490653.2:p.Ser593= | |
| ENST00000636774.1:c.*346C>T | ENSP00000489799.1:n.*346C>T | |
| ENST00000637238.1:c.516C>T | ENSP00000490756.1:p.Ser172= | |
| ENST00000637264.1:c.851C>T | ||
| ENST00000666746.1:c.1356C>T | ||
| ENST00000670281.1:c.99C>T | ENSP00000499709.1:p.Ser33= | |
| ENST00000672071.1:n.1977C>T | ||
| ENST00000672923.2:n.1882C>T | ||
| ENST00000268124.9:c.1779C>T | ENSP00000268124.5:p.Ser593= | |
| ENST00000442287.6:c.1779C>T | ENSP00000399851.2:p.Ser593= | |
| ENST00000526314.2:c.161C>T | ||
| ENST00000631044.2:c.*1162C>T | ENSP00000486730.1:n.*1162C>T | |
| NM_001126131.1:c.1779C>T | NP_001119603.1:p.Ser593= | |
| NM_002693.2:c.1779C>T | NP_002684.1:p.Ser593= | |
| NM_001126131.2:c.1779C>T | NP_001119603.1:p.Ser593= | |
| NM_002693.3:c.1779C>T MANE Select | NP_002684.1:p.Ser593= |