Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76348214G>A , CM000674.2:g.76348214G>A | GRCh38 |
| NC_000012.11:g.76741994G>A , CM000674.1:g.76741994G>A | GRCh37 |
| NC_000012.10:g.75266125G>A | NCBI36 |
| NG_016357.1:g.5229C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024685.4:c.145C>T MANE Select | NP_078961.3:p.Arg49Trp |
| ENST00000650064.2:c.145C>T MANE Select | ENSP00000497413.1:p.Arg49Trp |
| NM_024685.3:c.145C>T | NP_078961.3:p.Arg49Trp |
| ENST00000393262.3:c.145C>T | ENSP00000376946.3:p.Arg49Trp |