Linked Data
ClinVar Variation Id:
515186
dbSNP Id:
rs200693646
ExAC:
11:65318874 G / A
gnomAD v2:
11-65318874-G-A
gnomAD v3:
11-65551403-G-A
gnomAD v4:
11-65551403-G-A
COSMIC:
COSM467230
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65551403G>A , CM000673.2:g.65551403G>A | GRCh38 |
| NC_000011.9:g.65318874G>A , CM000673.1:g.65318874G>A | GRCh37 |
| NC_000011.8:g.65075450G>A | NCBI36 |
| NG_016437.1:g.11826C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526825.6:c.*883C>T | ENSP00000435146.2:n.*883C>T | |
| ENST00000526927.6:c.765C>T | ENSP00000431219.2:p.Pro255= | |
| ENST00000530866.6:c.1353C>T | ENSP00000435276.2:p.Pro451= | |
| ENST00000689505.1:c.1497C>T | ENSP00000510401.1:p.Pro499= | |
| ENST00000301873.11:c.1620C>T MANE Select | ENSP00000301873.5:p.Pro540= | |
| ENST00000301873.9:c.1620C>T | ENSP00000301873.5:p.Pro540= | |
| ENST00000322147.8:c.1620C>T | ENSP00000326647.4:p.Pro540= | |
| ENST00000526927.5:c.571C>T | ||
| ENST00000528516.5:c.*1265C>T | ENSP00000432350.1:n.*1265C>T | |
| ENST00000528966.5:n.377C>T | ||
| ENST00000529764.1:n.401C>T | ||
| ENST00000530866.5:c.1353C>T | ENSP00000435276.1:p.Pro451= | |
| ENST00000536982.5:c.-1372C>T | ENSP00000441912.2:n.-1372C>T | |
| NM_001130144.2:c.1620C>T | NP_001123616.1:p.Pro540= | |
| NM_001164266.1:c.1269C>T | NP_001157738.1:p.Pro423= | |
| NM_021070.4:c.1620C>T | NP_066548.2:p.Pro540= | |
| XM_011545032.1:c.1647C>T | XP_011543334.1:p.Pro549= | |
| XM_011545033.1:c.1647C>T | XP_011543335.1:p.Pro549= | |
| XR_949928.1:n.2047C>T | ||
| XM_011545032.2:c.1647C>T | XP_011543334.1:p.Pro549= | |
| XM_011545033.3:c.1647C>T | XP_011543335.1:p.Pro549= | |
| XM_017017737.2:c.1647C>T | XP_016873226.1:p.Pro549= | |
| XR_001747875.2:n.2070C>T | ||
| XR_949928.3:n.2070C>T | ||
| NM_001130144.3:c.1620C>T MANE Select | NP_001123616.1:p.Pro540= |