Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774280G= , CM000683.2:g.43774280G= | GRCh38 |
| NC_000021.8:g.45194161G= , CM000683.1:g.45194161G= | GRCh37 |
| NC_000021.7:g.44018589G= | NCBI36 |
| NG_011545.1:g.7099C= , LRG_485:g.7099C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.219C= MANE Select | ENSP00000291568.6:p.Leu73= | |
| ENST00000480147.3:n.1989C= | ||
| ENST00000639959.1:c.86C= | ||
| ENST00000640406.1:c.*294C= | ENSP00000492672.1:n.*294C= | |
| ENST00000675996.1:n.644C= | ||
| ENST00000291568.5:c.219C= | ENSP00000291568.5:p.Leu73= | |
| ENST00000480147.1:n.583C= | ||
| NM_000100.3:c.219C= , LRG_485t1:c.219C= | NP_000091.1:p.Leu73= | |
| NM_000100.4:c.219C= MANE Select | NP_000091.1:p.Leu73= |