Linked Data
ClinVar Variation Id:
18393
ClinVar RCV Id:
RCV000000004
dbSNP Id:
rs267606652
PubMed:
PMID:20080937
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52019125T>C , CM000675.2:g.52019125T>C | GRCh38 |
| NC_000013.10:g.52593261T>C , CM000675.1:g.52593261T>C | GRCh37 |
| NC_000013.9:g.51491262T>C | NCBI36 |
| NG_028038.1:g.11739T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000521508.2:c.257T>C MANE Select | ENSP00000430236.1:p.Leu86Ser | |
| ENST00000649340.2:c.257T>C | ENSP00000497184.2:p.Leu86Ser | |
| ENST00000649651.2:n.4561T>C | ||
| ENST00000649708.2:c.257T>C | ENSP00000497459.2:p.Leu86Ser | |
| ENST00000650049.2:c.257T>C | ENSP00000497398.2:p.Leu86Ser | |
| ENST00000679359.1:c.257T>C | ENSP00000505579.1:p.Leu86Ser | |
| ENST00000679495.1:n.44+6663T>C | ||
| ENST00000679544.1:c.257T>C | ENSP00000505560.1:p.Leu86Ser | |
| ENST00000680793.1:n.2181T>C | ||
| ENST00000680950.1:n.384T>C | ||
| ENST00000681047.1:c.257T>C | ENSP00000505034.1:p.Leu86Ser | |
| ENST00000681053.1:c.45-4881T>C | ENSP00000505307.1:n.45-4881T>C | |
| ENST00000681145.1:c.257T>C | ENSP00000505163.1:p.Leu86Ser | |
| ENST00000681226.1:n.377T>C | ||
| ENST00000521508.1:c.257T>C | ENSP00000430236.1:p.Leu86Ser | |
| ENST00000523764.1:c.44+6663T>C | ENSP00000429497.1:n.44+6663T>C | |
| NM_001004127.2:c.257T>C | NP_001004127.2:p.Leu86Ser | |
| NR_036571.2:n.76+6663T>C | ||
| NM_001004127.3:c.257T>C MANE Select | NP_001004127.2:p.Leu86Ser | |
| NR_036571.3:n.65+6663T>C |