Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218680A>T , CM000676.2:g.93218680A>T | GRCh38 |
| NC_000014.8:g.93685026A>T , CM000676.1:g.93685026A>T | GRCh37 |
| NC_000014.7:g.92754779A>T | NCBI36 |
| NG_051089.1:g.16625A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.755A>T MANE Select | ENSP00000013070.6:p.Lys252Ile | |
| ENST00000013070.10:c.755A>T | ENSP00000013070.6:p.Lys252Ile | |
| ENST00000416753.5:c.527A>T | ENSP00000391706.2:p.Lys176Ile | |
| ENST00000553674.1:c.*456A>T | ENSP00000450470.1:n.*456A>T | |
| ENST00000553857.5:c.378+3399A>T | ||
| NM_175748.3:c.755A>T | NP_786924.2:p.Lys252Ile | |
| NR_038150.1:n.857A>T | ||
| NM_175748.4:c.755A>T MANE Select | NP_786924.2:p.Lys252Ile | |
| NR_038150.2:n.657A>T |