Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12097733G>C , CM000672.2:g.12097733G>C | GRCh38 |
| NC_000010.10:g.12139732G>C , CM000672.1:g.12139732G>C | GRCh37 |
| NC_000010.9:g.12179738G>C | NCBI36 |
| NG_033248.1:g.33817G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263035.9:c.1408G>C MANE Select | ENSP00000263035.4:p.Gly470Arg | |
| ENST00000263035.8:c.1408G>C | ENSP00000263035.4:p.Gly470Arg | |
| ENST00000448829.1:c.62G>C | ||
| ENST00000465617.1:n.548G>C | ||
| NM_018706.6:c.1408G>C | NP_061176.3:p.Gly470Arg | |
| NM_018706.7:c.1408G>C MANE Select | NP_061176.4:p.Gly470Arg |