Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774291A= , CM000683.2:g.43774291A= | GRCh38 |
| NC_000021.8:g.45194172A= , CM000683.1:g.45194172A= | GRCh37 |
| NC_000021.7:g.44018600A= | NCBI36 |
| NG_011545.1:g.7088T= , LRG_485:g.7088T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.208T= MANE Select | ENSP00000291568.6:p.Phe70= | |
| ENST00000480147.3:n.1978T= | ||
| ENST00000639959.1:c.75T= | ||
| ENST00000640406.1:c.*283T= | ENSP00000492672.1:n.*283T= | |
| ENST00000675996.1:n.633T= | ||
| ENST00000291568.5:c.208T= | ENSP00000291568.5:p.Phe70= | |
| ENST00000480147.1:n.572T= | ||
| NM_000100.3:c.208T= , LRG_485t1:c.208T= | NP_000091.1:p.Phe70= | |
| NM_000100.4:c.208T= MANE Select | NP_000091.1:p.Phe70= |