Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774308A>C , CM000683.2:g.43774308A>C | GRCh38 |
| NC_000021.8:g.45194189A>C , CM000683.1:g.45194189A>C | GRCh37 |
| NC_000021.7:g.44018617A>C | NCBI36 |
| NG_011545.1:g.7071T>G , LRG_485:g.7071T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.191T>G MANE Select | ENSP00000291568.6:p.Phe64Cys | |
| ENST00000480147.3:n.1961T>G | ||
| ENST00000639959.1:c.58T>G | ||
| ENST00000640406.1:c.*266T>G | ENSP00000492672.1:n.*266T>G | |
| ENST00000675996.1:n.616T>G | ||
| ENST00000291568.5:c.191T>G | ENSP00000291568.5:p.Phe64Cys | |
| ENST00000480147.1:n.555T>G | ||
| NM_000100.3:c.191T>G , LRG_485t1:c.191T>G | NP_000091.1:p.Phe64Cys | |
| NM_000100.4:c.191T>G MANE Select | NP_000091.1:p.Phe64Cys |