Linked Data
ClinVar Variation Id:
312410
ClinVar RCV Id:
RCV000396940
dbSNP Id:
rs886050312
gnomAD v4:
13-52018943-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52018943C>T , CM000675.2:g.52018943C>T | GRCh38 |
| NC_000013.10:g.52593079C>T , CM000675.1:g.52593079C>T | GRCh37 |
| NC_000013.9:g.51491080C>T | NCBI36 |
| NG_028038.1:g.11557C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521508.2:c.75C>T MANE Select | ENSP00000430236.1:p.Leu25= | |
| ENST00000649340.2:c.75C>T | ENSP00000497184.2:p.Leu25= | |
| ENST00000649651.2:n.4379C>T | ||
| ENST00000649708.2:c.75C>T | ENSP00000497459.2:p.Leu25= | |
| ENST00000650049.2:c.75C>T | ENSP00000497398.2:p.Leu25= | |
| ENST00000679359.1:c.75C>T | ENSP00000505579.1:p.Leu25= | |
| ENST00000679495.1:n.44+6481C>T | ||
| ENST00000679544.1:c.75C>T | ENSP00000505560.1:p.Leu25= | |
| ENST00000680793.1:n.1999C>T | ||
| ENST00000680950.1:n.202C>T | ||
| ENST00000681047.1:c.75C>T | ENSP00000505034.1:p.Leu25= | |
| ENST00000681053.1:c.45-5063C>T | ENSP00000505307.1:n.45-5063C>T | |
| ENST00000681145.1:c.75C>T | ENSP00000505163.1:p.Leu25= | |
| ENST00000681226.1:n.195C>T | ||
| ENST00000521508.1:c.75C>T | ENSP00000430236.1:p.Leu25= | |
| ENST00000523764.1:c.44+6481C>T | ENSP00000429497.1:n.44+6481C>T | |
| NM_001004127.2:c.75C>T | NP_001004127.2:p.Leu25= | |
| NR_036571.2:n.76+6481C>T | ||
| NM_001004127.3:c.75C>T MANE Select | NP_001004127.2:p.Leu25= | |
| NR_036571.3:n.65+6481C>T |