Linked Data
MyVariant Identifiers:
chr10:g.124266359C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506843C>A , CM000672.2:g.122506843C>A | GRCh38 |
| NC_000010.10:g.124266359C>A , CM000672.1:g.124266359C>A | GRCh37 |
| NC_000010.9:g.124256349C>A | NCBI36 |
| NG_011554.1:g.50319C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.930C>A MANE Select | ENSP00000357980.3:p.Arg310= | |
| ENST00000648167.1:c.612C>A | ENSP00000498033.1:p.Arg204= | |
| ENST00000368984.7:c.930C>A | ENSP00000357980.3:p.Arg310= | |
| ENST00000420892.1:c.153C>A | ENSP00000412676.1:p.Arg51= | |
| NM_002775.4:c.930C>A | NP_002766.1:p.Arg310= | |
| NM_002775.5:c.930C>A MANE Select | NP_002766.1:p.Arg310= |