Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99217959C>T , CM000671.2:g.99217959C>T | GRCh38 |
| NC_000009.11:g.101980241C>T , CM000671.1:g.101980241C>T | GRCh37 |
| NC_000009.10:g.101020062C>T | NCBI36 |
| NG_008928.1:g.9006G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033087.4:c.1226G>A MANE Select | NP_149078.1:p.Arg409Gln |
| ENST00000476832.2:c.1226G>A MANE Select | ENSP00000417764.1:p.Arg409Gln |
| NM_033087.3:c.1226G>A | NP_149078.1:p.Arg409Gln |
| NR_024532.1:n.1455G>A | |
| NR_024532.2:n.1433G>A | |
| ENST00000238477.5:c.*968G>A | ENSP00000432675.2:n.*968G>A |
| ENST00000319033.7:c.947G>A | ENSP00000326609.6:p.Arg316Gln |
| ENST00000476832.1:c.1226G>A | ENSP00000417764.1:p.Arg409Gln |