Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125772712C>T , CM000672.2:g.125772712C>T | GRCh38 |
| NC_000010.10:g.127461281C>T , CM000672.1:g.127461281C>T | GRCh37 |
| NC_000010.9:g.127451271C>T | NCBI36 |
| NG_052815.1:g.8110G>A | |
| NG_052815.2:g.8110G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651834.1:c.80G>A | ||
| ENST00000651977.1:c.248+1119G>A | ||
| ENST00000368808.3:c.736G>A MANE Select | ENSP00000357798.3:p.Gly246Arg | |
| NM_147191.1:c.736G>A MANE Select | NP_671724.1:p.Gly246Arg | |
| XM_011539257.1:c.736G>A | XP_011537559.1:p.Gly246Arg |