Linked Data
dbSNP Id:
rs769963375
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520242T>G , CM000674.2:g.52520242T>G | GRCh38 |
| NC_000012.11:g.52914026T>G , CM000674.1:g.52914026T>G | GRCh37 |
| NC_000012.10:g.51200293T>G | NCBI36 |
| NG_008297.1:g.5218A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.55A>C MANE Select | ENSP00000252242.4:p.Thr19Pro | |
| ENST00000252242.8:c.55A>C | ENSP00000252242.4:p.Thr19Pro | |
| ENST00000546577.1:c.55A>C | ENSP00000449651.1:p.Thr19Pro | |
| ENST00000549420.1:c.43+12A>C | ENSP00000447209.1:n.43+12A>C | |
| ENST00000551275.1:c.55A>C | ENSP00000448041.1:p.Thr19Pro | |
| ENST00000552629.5:n.153A>C | ||
| NM_000424.3:c.55A>C | NP_000415.2:p.Thr19Pro | |
| NM_000424.4:c.55A>C MANE Select | NP_000415.2:p.Thr19Pro |