Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774274A>C , CM000683.2:g.43774274A>C | GRCh38 |
| NC_000021.8:g.45194155A>C , CM000683.1:g.45194155A>C | GRCh37 |
| NC_000021.7:g.44018583A>C | NCBI36 |
| NG_011545.1:g.7105T>G , LRG_485:g.7105T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.225T>G MANE Select | ENSP00000291568.6:p.His75Gln | |
| ENST00000480147.3:n.1995T>G | ||
| ENST00000639959.1:c.92T>G | ||
| ENST00000640406.1:c.*300T>G | ENSP00000492672.1:n.*300T>G | |
| ENST00000675996.1:n.650T>G | ||
| ENST00000291568.5:c.225T>G | ENSP00000291568.5:p.His75Gln | |
| ENST00000480147.1:n.589T>G | ||
| NM_000100.3:c.225T>G , LRG_485t1:c.225T>G | NP_000091.1:p.His75Gln | |
| NM_000100.4:c.225T>G MANE Select | NP_000091.1:p.His75Gln |