Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69572725G= , CM000672.2:g.69572725G= | GRCh38 |
| NC_000010.10:g.71332481G= , CM000672.1:g.71332481G= | GRCh37 |
| NC_000010.9:g.71002487G= | NCBI36 |
| NG_021321.1:g.5730C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020999.4:c.319C= MANE Select | NP_066279.2:p.Arg107= |
| ENST00000242462.5:c.319C= MANE Select | ENSP00000242462.4:p.Arg107= |
| NM_020999.3:c.319C= | NP_066279.2:p.Arg107= |
| ENST00000242462.4:c.319C= | ENSP00000242462.4:p.Arg107= |
| XM_017016280.1:c.319C= | XP_016871769.1:p.Arg107= |