Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774306C>A , CM000683.2:g.43774306C>A | GRCh38 |
| NC_000021.8:g.45194187C>A , CM000683.1:g.45194187C>A | GRCh37 |
| NC_000021.7:g.44018615C>A | NCBI36 |
| NG_011545.1:g.7073G>T , LRG_485:g.7073G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.193G>T MANE Select | ENSP00000291568.6:p.Val65Leu | |
| ENST00000480147.3:n.1963G>T | ||
| ENST00000639959.1:c.60G>T | ||
| ENST00000640406.1:c.*268G>T | ENSP00000492672.1:n.*268G>T | |
| ENST00000675996.1:n.618G>T | ||
| ENST00000291568.5:c.193G>T | ENSP00000291568.5:p.Val65Leu | |
| ENST00000480147.1:n.557G>T | ||
| NM_000100.3:c.193G>T , LRG_485t1:c.193G>T | NP_000091.1:p.Val65Leu | |
| NM_000100.4:c.193G>T MANE Select | NP_000091.1:p.Val65Leu |