Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774306C>T , CM000683.2:g.43774306C>T | GRCh38 |
| NC_000021.8:g.45194187C>T , CM000683.1:g.45194187C>T | GRCh37 |
| NC_000021.7:g.44018615C>T | NCBI36 |
| NG_011545.1:g.7073G>A , LRG_485:g.7073G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000100.4:c.193G>A MANE Select | NP_000091.1:p.Val65Ile |
| ENST00000291568.7:c.193G>A MANE Select | ENSP00000291568.6:p.Val65Ile |
| NM_000100.3:c.193G>A , LRG_485t1:c.193G>A | NP_000091.1:p.Val65Ile |
| ENST00000291568.5:c.193G>A | ENSP00000291568.5:p.Val65Ile |
| ENST00000480147.1:n.557G>A | |
| ENST00000480147.3:n.1963G>A | |
| ENST00000639959.1:c.60G>A | |
| ENST00000640406.1:c.*268G>A | ENSP00000492672.1:n.*268G>A |
| ENST00000675996.1:n.618G>A |