Linked Data
MyVariant Identifiers:
chr14:g.93684925A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218579A>C , CM000676.2:g.93218579A>C | GRCh38 |
| NC_000014.8:g.93684925A>C , CM000676.1:g.93684925A>C | GRCh37 |
| NC_000014.7:g.92754678A>C | NCBI36 |
| NG_051089.1:g.16524A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.654A>C MANE Select | ENSP00000013070.6:p.Ile218= | |
| ENST00000013070.10:c.654A>C | ENSP00000013070.6:p.Ile218= | |
| ENST00000416753.5:c.426A>C | ENSP00000391706.2:p.Ile142= | |
| ENST00000553674.1:c.*355A>C | ENSP00000450470.1:n.*355A>C | |
| ENST00000553857.5:c.378+3298A>C | ||
| ENST00000556871.5:c.363A>C | ENSP00000451022.1:p.Ile121= | |
| ENST00000557048.1:n.563A>C | ||
| NM_175748.3:c.654A>C | NP_786924.2:p.Ile218= | |
| NR_038150.1:n.756A>C | ||
| NM_175748.4:c.654A>C MANE Select | NP_786924.2:p.Ile218= | |
| NR_038150.2:n.556A>C |