Linked Data
MyVariant Identifiers:
chr10:g.124268228A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508712A>C , CM000672.2:g.122508712A>C | GRCh38 |
| NC_000010.10:g.124268228A>C , CM000672.1:g.124268228A>C | GRCh37 |
| NC_000010.9:g.124258218A>C | NCBI36 |
| NG_011554.1:g.52188A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1062A>C MANE Select | ENSP00000357980.3:p.Ala354= | |
| ENST00000648167.1:c.744A>C | ENSP00000498033.1:p.Ala248= | |
| ENST00000368984.7:c.1062A>C | ENSP00000357980.3:p.Ala354= | |
| ENST00000420892.1:c.285A>C | ENSP00000412676.1:p.Ala95= | |
| NM_002775.4:c.1062A>C | NP_002766.1:p.Ala354= | |
| NM_002775.5:c.1062A>C MANE Select | NP_002766.1:p.Ala354= |