Linked Data
ClinVar Variation Id:
312693
dbSNP Id:
rs549506051
ExAC:
14:105174807 C / T
gnomAD v2:
14-105174807-C-T
gnomAD v3:
14-104708470-C-T
gnomAD v4:
14-104708470-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104708470C>T , CM000676.2:g.104708470C>T | GRCh38 |
| NC_000014.8:g.105174807C>T , CM000676.1:g.105174807C>T | GRCh37 |
| NC_000014.7:g.104245852C>T | NCBI36 |
| NG_027684.1:g.23865C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.1770C>T MANE Select | ENSP00000376410.4:p.Pro590= | |
| ENST00000617571.5:c.1770C>T | ENSP00000483829.2:p.Pro590= | |
| ENST00000674520.1:c.1770C>T | ENSP00000502593.1:p.Pro590= | |
| ENST00000674602.1:c.751-62C>T | ||
| ENST00000674662.1:c.1770C>T | ENSP00000501895.1:p.Pro590= | |
| ENST00000674757.1:c.1770C>T | ENSP00000502202.1:p.Pro590= | |
| ENST00000674822.1:c.1654C>T | ENSP00000501552.1:n.1654C>T | |
| ENST00000674846.1:c.1770C>T | ENSP00000502431.1:p.Pro590= | |
| ENST00000674857.1:c.1759C>T | ENSP00000501687.1:n.1759C>T | |
| ENST00000674960.1:c.1628C>T | ENSP00000501841.1:n.1628C>T | |
| ENST00000674991.1:c.1020C>T | ENSP00000502004.1:p.Pro340= | |
| ENST00000674994.1:c.1736C>T | ENSP00000502442.1:n.1736C>T | |
| ENST00000675207.1:c.1866C>T | ENSP00000502644.1:p.Pro622= | |
| ENST00000675329.1:c.1746C>T | ENSP00000502287.1:p.Pro582= | |
| ENST00000675481.1:c.1770C>T | ENSP00000502723.1:p.Pro590= | |
| ENST00000675583.1:c.1770C>T | ENSP00000501740.1:p.Pro590= | |
| ENST00000675638.1:c.1770C>T | ENSP00000501647.1:p.Pro590= | |
| ENST00000675724.1:c.1770C>T | ENSP00000502576.1:p.Pro590= | |
| ENST00000675771.1:c.1033C>T | ENSP00000502104.1:n.1033C>T | |
| ENST00000675797.1:c.1175C>T | ENSP00000502023.1:n.1175C>T | |
| ENST00000675809.1:c.1770C>T | ENSP00000502587.1:p.Pro590= | |
| ENST00000675930.1:c.1770C>T | ENSP00000502456.1:p.Pro590= | |
| ENST00000675980.1:c.1770C>T | ENSP00000502520.1:p.Pro590= | |
| ENST00000676016.1:c.1770C>T | ENSP00000502412.1:p.Pro590= | |
| ENST00000676366.1:c.1770C>T | ENSP00000501605.1:p.Pro590= | |
| ENST00000252527.8:c.174C>T | ENSP00000252527.8:p.Pro58= | |
| ENST00000330634.11:c.1770C>T | ENSP00000376406.3:p.Pro590= | |
| ENST00000392634.8:c.1770C>T | ENSP00000376410.4:p.Pro590= | |
| ENST00000474229.1:n.180C>T | ||
| ENST00000617571.4:c.-2354C>T | ENSP00000483829.1:n.-2354C>T | |
| NM_001031714.3:c.1770C>T | NP_001026884.3:p.Pro590= | |
| NM_022489.3:c.1770C>T | NP_071934.3:p.Pro590= | |
| XM_005268004.3:c.1866C>T | XP_005268061.1:p.Pro622= | |
| XM_005268005.3:c.1866C>T | XP_005268062.1:p.Pro622= | |
| XR_943507.1:n.1995C>T | ||
| XM_005268004.4:c.1866C>T | XP_005268061.1:p.Pro622= | |
| XM_005268005.4:c.1866C>T | XP_005268062.1:p.Pro622= | |
| XM_017021595.1:c.1866C>T | XP_016877084.1:p.Pro622= | |
| XR_001750518.1:n.1971C>T | ||
| NM_001031714.4:c.1770C>T | NP_001026884.3:p.Pro590= | |
| NM_022489.4:c.1770C>T MANE Select | NP_071934.3:p.Pro590= |