Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985990C= , CM000678.2:g.1985990C= | GRCh38 |
| NC_000016.9:g.2035991C= , CM000678.1:g.2035991C= | GRCh37 |
| NC_000016.8:g.1975992C= | NCBI36 |
| NG_016288.1:g.6842C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.355C= | ENSP00000455885.1:p.Arg119= | |
| ENST00000248114.7:c.580C= MANE Select | ENSP00000248114.6:p.Arg194= | |
| ENST00000248114.6:c.580C= | ENSP00000248114.6:p.Arg194= | |
| ENST00000565658.1:n.737C= | ||
| ENST00000567719.1:c.355C= | ENSP00000455885.1:p.Arg119= | |
| ENST00000569451.1:c.*53C= | ENSP00000456432.1:n.*53C= | |
| NM_005262.2:c.580C= | NP_005253.3:p.Arg194= | |
| NM_005262.3:c.580C= MANE Select | NP_005253.3:p.Arg194= |