Linked Data
ClinVar Variation Id:
329887
dbSNP Id:
rs199761611
ExAC:
19:50339483 C / A
gnomAD v2:
19-50339483-C-A
gnomAD v3:
19-49836226-C-A
gnomAD v4:
19-49836226-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49836226C>A , CM000681.2:g.49836226C>A | GRCh38 |
| NC_000019.9:g.50339483C>A , CM000681.1:g.50339483C>A | GRCh37 |
| NC_000019.8:g.55031295C>A | NCBI36 |
| NG_017091.1:g.22948C>A , LRG_368:g.22948C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593767.3:c.1966C>A | ENSP00000470692.3:p.Pro656Thr | |
| ENST00000312865.10:c.1966C>A MANE Select | ENSP00000326767.5:p.Pro656Thr | |
| ENST00000538643.5:c.1327C>A | ENSP00000437496.1:p.Pro443Thr | |
| ENST00000593767.1:c.412C>A | ||
| ENST00000594998.1:n.2586C>A | ||
| ENST00000595185.5:c.689-665C>A | ENSP00000470027.1:n.689-665C>A | |
| ENST00000612791.4:c.762-613C>A | ENSP00000479851.1:n.762-613C>A | |
| ENST00000612854.4:c.451-27C>A | ENSP00000482155.1:n.451-27C>A | |
| ENST00000617849.4:c.1171C>A | ENSP00000484882.1:p.Pro391Thr | |
| ENST00000618715.4:c.1171C>A | ENSP00000480731.1:p.Pro391Thr | |
| ENST00000620467.4:c.973-57C>A | ENSP00000482659.1:n.973-57C>A | |
| ENST00000622046.1:c.432C>A | ENSP00000483584.1:p.Arg144= | |
| ENST00000622402.4:c.265C>A | ENSP00000478074.1:p.Pro89Thr | |
| NM_030973.3:c.1966C>A , LRG_368t1:c.1966C>A | NP_112235.2:p.Pro656Thr | |
| XM_011527353.1:c.1966C>A | XP_011525655.1:p.Pro656Thr | |
| NM_001378355.1:c.1966C>A | NP_001365284.1:p.Pro656Thr | |
| NM_030973.4:c.1966C>A MANE Select | NP_112235.2:p.Pro656Thr |