Linked Data
dbSNP Id:
rs769247857
ExAC:
17:47486475 A / G
gnomAD v2:
17-47486475-A-G
gnomAD v4:
17-49409113-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49409113A>G , CM000679.2:g.49409113A>G | GRCh38 |
| NC_000017.10:g.47486475A>G , CM000679.1:g.47486475A>G | GRCh37 |
| NC_000017.9:g.44841474A>G | NCBI36 |
| NG_023046.1:g.10768T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696365.1:c.417+22T>C | ENSP00000512581.1:n.417+22T>C | |
| ENST00000300408.8:c.439T>C MANE Select | ENSP00000300408.3:p.Ser147Pro | |
| ENST00000419140.7:c.439T>C | ENSP00000393320.3:p.Ser147Pro | |
| ENST00000434917.3:n.530T>C | ||
| ENST00000446735.6:c.277T>C | ENSP00000407828.2:p.Ser93Pro | |
| ENST00000504124.6:c.439T>C | ENSP00000426433.3:p.Ser147Pro | |
| ENST00000508009.6:n.530T>C | ||
| ENST00000511832.6:c.439T>C | ENSP00000425035.2:p.Ser147Pro | |
| ENST00000512041.7:c.439T>C | ENSP00000422182.3:p.Ser147Pro | |
| ENST00000614445.5:c.439T>C | ENSP00000479488.1:p.Ser147Pro | |
| ENST00000617874.5:c.439T>C | ENSP00000484113.1:p.Ser147Pro | |
| ENST00000300408.7:c.439T>C | ENSP00000300408.3:p.Ser147Pro | |
| ENST00000393345.8:n.490T>C | ||
| ENST00000419140.6:c.439T>C | ENSP00000393320.2:p.Ser147Pro | |
| ENST00000446735.5:c.439T>C | ENSP00000407828.1:p.Ser147Pro | |
| ENST00000504124.5:c.439T>C | ENSP00000426433.2:p.Ser147Pro | |
| ENST00000506273.1:n.394T>C | ||
| ENST00000508009.5:n.266T>C | ||
| ENST00000511832.5:c.417+22T>C | ENSP00000425035.1:n.417+22T>C | |
| ENST00000512041.6:c.439T>C | ENSP00000422182.2:p.Ser147Pro | |
| ENST00000614445.4:c.439T>C | ENSP00000479488.1:p.Ser147Pro | |
| ENST00000617874.4:c.439T>C | ENSP00000484113.1:p.Ser147Pro | |
| NM_001281496.1:c.439T>C | NP_001268425.1:p.Ser147Pro | |
| NM_001281497.1:c.417+22T>C | NP_001268426.1:n.417+22T>C | |
| NM_001281715.1:c.439T>C | NP_001268644.1:p.Ser147Pro | |
| NM_002634.3:c.439T>C | NP_002625.1:p.Ser147Pro | |
| XM_017024763.1:c.439T>C | XP_016880252.1:p.Ser147Pro | |
| NM_002634.4:c.439T>C MANE Select | NP_002625.1:p.Ser147Pro | |
| NM_001281496.2:c.439T>C | NP_001268425.1:p.Ser147Pro | |
| NM_001281497.2:c.417+22T>C | NP_001268426.1:n.417+22T>C | |
| NM_001281715.2:c.439T>C | NP_001268644.1:p.Ser147Pro |