Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774110G>A , CM000683.2:g.43774110G>A | GRCh38 |
| NC_000021.8:g.45193991G>A , CM000683.1:g.45193991G>A | GRCh37 |
| NC_000021.7:g.44018419G>A | NCBI36 |
| NG_011545.1:g.7269C>T , LRG_485:g.7269C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.*92C>T MANE Select | ENSP00000291568.6:n.*92C>T | |
| ENST00000480147.3:n.2159C>T | ||
| ENST00000639959.1:c.256C>T | ||
| ENST00000640406.1:c.*464C>T | ENSP00000492672.1:n.*464C>T | |
| ENST00000675996.1:n.814C>T | ||
| ENST00000291568.5:c.*92C>T | ENSP00000291568.5:n.*92C>T | |
| NM_000100.3:c.*92C>T , LRG_485t1:c.*92C>T | NP_000091.1:n.*92C>T | |
| NM_000100.4:c.*92C>T MANE Select | NP_000091.1:n.*92C>T |