Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12112930G>A , CM000672.2:g.12112930G>A | GRCh38 |
| NC_000010.10:g.12154929G>A , CM000672.1:g.12154929G>A | GRCh37 |
| NC_000010.9:g.12194935G>A | NCBI36 |
| NG_033248.1:g.49014G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.2185G>A MANE Select | NP_061176.4:p.Gly729Arg |
| ENST00000263035.9:c.2185G>A MANE Select | ENSP00000263035.4:p.Gly729Arg |
| NM_018706.6:c.2185G>A | NP_061176.3:p.Gly729Arg |
| ENST00000263035.8:c.2185G>A | ENSP00000263035.4:p.Gly729Arg |
| ENST00000448829.1:c.688G>A |