Linked Data
ClinVar Variation Id:
909540
dbSNP Id:
rs773281783
ExAC:
7:44190603 G / C
gnomAD v2:
7-44190603-G-C
gnomAD v3:
7-44151004-G-C
gnomAD v4:
7-44151004-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44151004G>C , CM000669.2:g.44151004G>C | GRCh38 |
| NC_000007.13:g.44190603G>C , CM000669.1:g.44190603G>C | GRCh37 |
| NC_000007.12:g.44157128G>C | NCBI36 |
| NG_008847.1:g.43420C>G | |
| NG_008847.2:g.52167C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*433C>G | ENSP00000379142.4:n.*433C>G | |
| ENST00000616242.5:c.435C>G | ENSP00000482149.2:p.Pro145= | |
| ENST00000682635.1:n.921C>G | ||
| ENST00000345378.7:c.438C>G | ENSP00000223366.2:p.Pro146= | |
| ENST00000403799.8:c.435C>G MANE Select | ENSP00000384247.3:p.Pro145= | |
| ENST00000671824.1:c.435C>G | ENSP00000500264.1:p.Pro145= | |
| ENST00000673284.1:c.435C>G | ENSP00000499852.1:p.Pro145= | |
| ENST00000345378.6:c.438C>G | ENSP00000223366.2:p.Pro146= | |
| ENST00000395796.7:c.432C>G | ENSP00000379142.3:p.Pro144= | |
| ENST00000403799.7:c.435C>G | ENSP00000384247.3:p.Pro145= | |
| ENST00000437084.1:c.384C>G | ENSP00000402840.1:p.Pro128= | |
| ENST00000616242.4:c.432C>G | ENSP00000482149.1:p.Pro144= | |
| NM_000162.3:c.435C>G | NP_000153.1:p.Pro145= | |
| NM_033507.1:c.438C>G | NP_277042.1:p.Pro146= | |
| NM_033508.1:c.432C>G | NP_277043.1:p.Pro144= | |
| NM_000162.4:c.435C>G | NP_000153.1:p.Pro145= | |
| NM_001354800.1:c.435C>G | NP_001341729.1:p.Pro145= | |
| NM_033507.2:c.438C>G | NP_277042.1:p.Pro146= | |
| NM_033508.2:c.432C>G | NP_277043.1:p.Pro144= | |
| NM_000162.5:c.435C>G MANE Select | NP_000153.1:p.Pro145= | |
| NM_033507.3:c.438C>G | NP_277042.1:p.Pro146= | |
| NM_033508.3:c.432C>G | NP_277043.1:p.Pro144= |