Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924312C= , CM000675.2:g.27924312C= | GRCh38 |
| NC_000013.10:g.28498449C= , CM000675.1:g.28498449C= | GRCh37 |
| NC_000013.9:g.27396449C= | NCBI36 |
| NG_008183.1:g.9282C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.463C= MANE Select | ENSP00000370421.4:p.Arg155= | |
| ENST00000381033.4:c.463C= | ENSP00000370421.4:p.Arg155= | |
| NM_000209.3:c.463C= | NP_000200.1:p.Arg155= | |
| XR_941579.1:n.2189C= | ||
| XR_941580.1:n.1105C= | ||
| XR_941580.2:n.1117C= | ||
| NM_000209.4:c.463C= MANE Select | NP_000200.1:p.Arg155= |