Linked Data
ClinVar Variation Id:
241549
dbSNP Id:
rs878855111
gnomAD v3:
16-23626331-G-T
gnomAD v4:
16-23626331-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23626331G>T , CM000678.2:g.23626331G>T | GRCh38 |
| NC_000016.9:g.23637652G>T , CM000678.1:g.23637652G>T | GRCh37 |
| NC_000016.8:g.23545153G>T | NCBI36 |
| NG_007406.1:g.20027C>A , LRG_308:g.20027C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.2659C>A | ENSP00000460666.3:p.Pro887Thr | |
| ENST00000565038.2:c.*134C>A | ENSP00000459882.2:n.*134C>A | |
| ENST00000566069.6:c.2653C>A | ENSP00000459237.2:p.Pro885Thr | |
| ENST00000697377.2:c.2593-2237C>A | ENSP00000513286.2:n.2593-2237C>A | |
| ENST00000697379.2:c.2659C>A | ENSP00000513287.2:p.Pro887Thr | |
| ENST00000561514.2:c.1768C>A | ENSP00000460666.2:p.Pro590Thr | |
| ENST00000697374.1:c.1768C>A | ENSP00000513284.1:p.Pro590Thr | |
| ENST00000697375.1:n.4000C>A | ||
| ENST00000697376.1:c.1768C>A | ENSP00000513285.1:p.Pro590Thr | |
| ENST00000697377.1:c.1702-2237C>A | ENSP00000513286.1:n.1702-2237C>A | |
| ENST00000697378.1:n.3173C>A | ||
| ENST00000697379.1:c.1768C>A | ENSP00000513287.1:p.Pro590Thr | |
| ENST00000697380.1:n.1945C>A | ||
| ENST00000697381.1:n.1348C>A | ||
| ENST00000697382.1:c.1768C>A | ENSP00000513288.1:p.Pro590Thr | |
| ENST00000697383.1:c.187C>A | ENSP00000513289.1:p.Pro63Thr | |
| ENST00000261584.9:c.2653C>A MANE Select | ENSP00000261584.4:p.Pro885Thr | |
| ENST00000261584.8:c.2653C>A | ENSP00000261584.4:p.Pro885Thr | |
| ENST00000565038.1:c.225C>A | ||
| ENST00000568219.5:c.1768C>A | ENSP00000454703.2:p.Pro590Thr | |
| NM_024675.3:c.2653C>A , LRG_308t1:c.2653C>A | NP_078951.2:p.Pro885Thr | |
| XM_011545946.1:c.2659C>A | XP_011544248.1:p.Pro887Thr | |
| XM_011545947.1:c.2659C>A | XP_011544249.1:p.Pro887Thr | |
| XM_011545948.1:c.1768C>A | XP_011544250.1:p.Pro590Thr | |
| XR_950851.1:n.3449C>A | ||
| XM_011545946.2:c.2659C>A | XP_011544248.1:p.Pro887Thr | |
| XM_011545947.2:c.2659C>A | XP_011544249.1:p.Pro887Thr | |
| XM_011545948.2:c.1768C>A | XP_011544250.1:p.Pro590Thr | |
| XM_017023671.1:c.2659C>A | XP_016879160.1:p.Pro887Thr | |
| XM_017023672.2:c.2653C>A | XP_016879161.1:p.Pro885Thr | |
| XM_017023673.2:c.2653C>A | XP_016879162.1:p.Pro885Thr | |
| NM_024675.4:c.2653C>A MANE Select | NP_078951.2:p.Pro885Thr |