Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719369C= , CM000667.2:g.71719369C= | GRCh38 |
| NC_000005.9:g.71015196C= , CM000667.1:g.71015196C= | GRCh37 |
| NC_000005.8:g.71050952C= | NCBI36 |
| NG_015988.1:g.5207C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296777.5:c.76C= MANE Select | ENSP00000296777.4:p.Arg26= | |
| ENST00000296777.4:c.76C= | ENSP00000296777.4:p.Arg26= | |
| NM_004291.3:c.76C= | NP_004282.1:p.Arg26= | |
| NM_004291.4:c.76C= MANE Select | NP_004282.1:p.Arg26= |