Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94949191T>A , CM000672.2:g.94949191T>A | GRCh38 |
| NC_000010.10:g.96708948T>A , CM000672.1:g.96708948T>A | GRCh37 |
| NC_000010.9:g.96698938T>A | NCBI36 |
| NG_008385.1:g.15534T>A | |
| NG_008385.2:g.16034T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.726T>A MANE Select | ENSP00000260682.6:p.Ser242Arg | |
| ENST00000643112.1:c.726T>A | ENSP00000496202.1:p.Ser242Arg | |
| ENST00000260682.6:c.726T>A | ENSP00000260682.6:p.Ser242Arg | |
| ENST00000473496.1:n.497T>A | ||
| NM_000771.3:c.726T>A | NP_000762.2:p.Ser242Arg | |
| NM_000771.4:c.726T>A MANE Select | NP_000762.2:p.Ser242Arg |