Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218734A>T , CM000676.2:g.93218734A>T | GRCh38 |
| NC_000014.8:g.93685080A>T , CM000676.1:g.93685080A>T | GRCh37 |
| NC_000014.7:g.92754833A>T | NCBI36 |
| NG_051089.1:g.16679A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.809A>T MANE Select | ENSP00000013070.6:p.Gln270Leu | |
| ENST00000013070.10:c.809A>T | ENSP00000013070.6:p.Gln270Leu | |
| ENST00000416753.5:c.581A>T | ENSP00000391706.2:p.Gln194Leu | |
| ENST00000553674.1:c.*510A>T | ENSP00000450470.1:n.*510A>T | |
| ENST00000553857.5:c.378+3453A>T | ||
| ENST00000555329.1:c.54A>T | ||
| NM_175748.3:c.809A>T | NP_786924.2:p.Gln270Leu | |
| NR_038150.1:n.911A>T | ||
| NM_175748.4:c.809A>T MANE Select | NP_786924.2:p.Gln270Leu | |
| NR_038150.2:n.711A>T |