Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55231712T>C , CM000667.2:g.55231712T>C | GRCh38 |
| NC_000005.9:g.54527540T>C , CM000667.1:g.54527540T>C | GRCh37 |
| NC_000005.8:g.54563297T>C | NCBI36 |
| NG_034201.1:g.7006A>G | |
| NG_051620.1:g.604A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.716A>G MANE Select | ENSP00000282572.4:p.His239Arg | |
| ENST00000282572.4:c.716A>G | ENSP00000282572.4:p.His239Arg | |
| ENST00000501463.2:c.*696A>G | ENSP00000422485.1:n.*696A>G | |
| NM_021147.4:c.716A>G | NP_066970.3:p.His239Arg | |
| NR_125346.1:n.1286A>G | ||
| NR_125347.1:n.915A>G | ||
| NR_125348.1:n.780A>G | ||
| NM_021147.5:c.716A>G MANE Select | NP_066970.3:p.His239Arg | |
| NR_125346.2:n.1177A>G | ||
| NR_125347.2:n.806A>G |