Linked Data
ClinVar Variation Id:
1564479
ClinVar RCV Id:
RCV002212655
dbSNP Id:
rs745735439
ExAC:
5:137780110 C / T
gnomAD v2:
5-137780110-C-T
gnomAD v4:
5-138444421-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138444421C>T , CM000667.2:g.138444421C>T | GRCh38 |
| NC_000005.9:g.137780110C>T , CM000667.1:g.137780110C>T | GRCh37 |
| NC_000005.8:g.137808009C>T | NCBI36 |
| NG_033967.1:g.10421C>T | |
| NG_033967.2:g.10421C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378339.7:c.189C>T MANE Select | ENSP00000367590.2:p.Pro63= | |
| ENST00000254901.9:c.189C>T | ENSP00000254901.5:p.Pro63= | |
| ENST00000378339.6:c.189C>T | ENSP00000367590.2:p.Pro63= | |
| ENST00000503379.5:n.287C>T | ||
| ENST00000506158.5:c.75C>T | ENSP00000422530.1:p.Pro25= | |
| ENST00000507511.5:c.112C>T | ENSP00000424441.1:p.Leu38Phe | |
| ENST00000507635.5:n.94C>T | ||
| ENST00000510467.5:n.230C>T | ||
| ENST00000512126.5:c.302C>T | ||
| ENST00000613650.1:c.75C>T | ENSP00000479268.1:p.Pro25= | |
| NM_001271803.1:c.189C>T | NP_001258732.1:p.Pro63= | |
| NM_016606.3:c.189C>T | NP_057690.2:p.Pro63= | |
| NR_073448.1:n.472C>T | ||
| NR_073449.1:n.472C>T | ||
| NM_001271803.2:c.189C>T MANE Select | NP_001258732.1:p.Pro63= | |
| NM_016606.4:c.189C>T | NP_057690.2:p.Pro63= | |
| NR_073448.2:n.416C>T | ||
| NR_073449.2:n.416C>T |