Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48875917T>C , CM000681.2:g.48875917T>C | GRCh38 |
| NC_000019.9:g.49379174T>C , CM000681.1:g.49379174T>C | GRCh37 |
| NC_000019.8:g.54070986T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600406.2:c.*824T>C | ENSP00000469239.2:n.*824T>C | |
| ENST00000704026.1:c.1684T>C | ENSP00000515636.1:p.Ser562Pro | |
| ENST00000704027.1:c.2017T>C | ENSP00000515637.1:p.Ser673Pro | |
| ENST00000200453.6:c.1969T>C MANE Select | ENSP00000200453.4:p.Ser657Pro | |
| ENST00000200453.5:c.1969T>C | ENSP00000200453.4:p.Ser657Pro | |
| ENST00000600406.1:c.1600T>C | ||
| NM_014330.3:c.1969T>C | NP_055145.3:p.Ser657Pro | |
| NM_014330.5:c.1969T>C MANE Select | NP_055145.3:p.Ser657Pro |