Linked Data
dbSNP Id:
rs764593975
ExAC:
17:4535279 T / G
gnomAD v2:
17-4535279-T-G
gnomAD v4:
17-4631984-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4631984T>G , CM000679.2:g.4631984T>G | GRCh38 |
| NC_000017.10:g.4535279T>G , CM000679.1:g.4535279T>G | GRCh37 |
| NC_000017.9:g.4482028T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.1714A>C MANE Select | ENSP00000293761.3:p.Thr572Pro | |
| ENST00000570836.6:c.1714A>C | ENSP00000458832.1:p.Thr572Pro | |
| ENST00000293761.7:c.1714A>C | ENSP00000293761.3:p.Thr572Pro | |
| ENST00000570836.5:c.1714A>C | ENSP00000458832.1:p.Thr572Pro | |
| ENST00000574640.1:c.1597A>C | ENSP00000460483.1:p.Thr533Pro | |
| NM_001140.3:c.1714A>C | NP_001131.3:p.Thr572Pro | |
| NM_001140.4:c.1714A>C | NP_001131.3:p.Thr572Pro | |
| NM_001140.5:c.1714A>C MANE Select | NP_001131.3:p.Thr572Pro |